-
2
-
-
0034727107
-
An SNP map of the human genome generated by reduced representation shotgun sequencing
-
Altshuler D, Pollara VJ, Cowles CR, Van Etten WJ, Baldwin J, Linton L, Lander ES (2000). An SNP map of the human genome generated by reduced representation shotgun sequencing. Nature 407:513-516.
-
(2000)
Nature
, vol.407
, pp. 513-516
-
-
Altshuler, D.1
Pollara, V.J.2
Cowles, C.R.3
Van Etten, W.J.4
Baldwin, J.5
Linton, L.6
Lander, E.S.7
-
3
-
-
0346720473
-
Genotype, viral load and age as independent predictors of treatment outcome of interferon-α 2a treatment in patients with chronic hepatitis C
-
Bell H, Hellum K, Harthug S, Maeland A, Ritland S, Myrvang B, et al. (1997). Genotype, viral load and age as independent predictors of treatment outcome of interferon-α 2a treatment in patients with chronic hepatitis C. Scand J Infect Dis 29:17-22.
-
(1997)
Scand J Infect Dis
, vol.29
, pp. 17-22
-
-
Bell, H.1
Hellum, K.2
Harthug, S.3
Maeland, A.4
Ritland, S.5
Myrvang, B.6
-
4
-
-
0032406371
-
Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families
-
Bjursell C, Wahlstrom J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T (1998). Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Eur J Hum Genet 6:603-611.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 603-611
-
-
Bjursell, C.1
Wahlstrom, J.2
Berg, K.3
Stibler, H.4
Kristiansson, B.5
Matthijs, G.6
Martinsson, T.7
-
5
-
-
0033744936
-
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families
-
Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlstrom J, Stibler H, Kristiansson B, Martinsson T (2000). PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Hum Mutat 16:395-400.
-
(2000)
Hum Mutat
, vol.16
, pp. 395-400
-
-
Bjursell, C.1
Erlandson, A.2
Nordling, M.3
Nilsson, S.4
Wahlstrom, J.5
Stibler, H.6
Kristiansson, B.7
Martinsson, T.8
-
6
-
-
0032919458
-
Options available-from start to finish-for obtaining expression data by microarray
-
Bowtell DDL (1999). Options available-from start to finish-for obtaining expression data by microarray. Nat Genet Suppl 21:25-31.
-
(1999)
Nat Genet Suppl
, vol.21
, pp. 25-31
-
-
Bowtell, D.D.L.1
-
7
-
-
0030696831
-
Human cystathionine beta-synthase: Gene organization and expression of different 5-prime alternative splicing
-
Chasse JF, Paul V, Escanez R, Kamoun P, London J (1997). Human cystathionine beta-synthase: Gene organization and expression of different 5-prime alternative splicing. Mammalian Genome 8:917-921.
-
(1997)
Mammalian Genome
, vol.8
, pp. 917-921
-
-
Chasse, J.F.1
Paul, V.2
Escanez, R.3
Kamoun, P.4
London, J.5
-
8
-
-
0025820863
-
Maple syrup urine disease: Domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex
-
Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP (1991). Maple syrup urine disease: Domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex. Molec Biol Med 8:49-63.
-
(1991)
Molec Biol Med
, vol.8
, pp. 49-63
-
-
Chuang, D.T.1
Fisher, C.W.2
Lau, K.S.3
Griffin, T.A.4
Wynn, R.M.5
Cox, R.P.6
-
9
-
-
0001106274
-
Disorders of branched chain amino acid and keto acid metabolism
-
Scriver CR, Beaudet AL, Sly WS, Valle D (editors). New York: McGraw-Hill
-
Chuang DT, Shih VE (1995). Disorders of branched chain amino acid and keto acid metabolism. In: Metabolic and Molecular Bases of Inherited Disease, 7th Ed., Scriver CR, Beaudet AL, Sly WS, Valle D (editors). New York: McGraw-Hill. pp. 1239-1277.
-
(1995)
Metabolic and Molecular Bases of Inherited Disease, 7th Ed.
, pp. 1239-1277
-
-
Chuang, D.T.1
Shih, V.E.2
-
10
-
-
0027194791
-
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
-
Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, et al. (1993). Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261:921-923.
-
(1993)
Science
, vol.261
, pp. 921-923
-
-
Corder, E.H.1
Saunders, A.M.2
Strittmatter, W.J.3
Schmechel, D.E.4
Gaskell, P.C.5
Small, G.W.6
-
11
-
-
0024419365
-
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU)
-
Daiger SP, Reel L, Huong SS, Zeng YT, Low H, Okano Y, et al. (1989). Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU). Am J Hum Genet 45:319-324.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 319-324
-
-
Daiger, S.P.1
Reel, L.2
Huong, S.S.3
Zeng, Y.T.4
Low, H.5
Okano, Y.6
-
12
-
-
0014200663
-
Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease
-
Dancis J, Hutzler J, Rokkones T (1967). Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease. N Engl J Med 276:84-89.
-
(1967)
N Engl J Med
, vol.276
, pp. 84-89
-
-
Dancis, J.1
Hutzler, J.2
Rokkones, T.3
-
13
-
-
0024545024
-
Human hypoxanthine-guanine phosphoribosyltransferase deficiency: The molecular defect in a patient with gout (HPRT-Ashville)
-
Davidson BL, Pashmforoush M, Kelley WN, Palella TD (1989). Human hypoxanthine-guanine phosphoribosyltransferase deficiency: The molecular defect in a patient with gout (HPRT-Ashville). J Biol Chem 264:520-525.
-
(1989)
J Biol Chem
, vol.264
, pp. 520-525
-
-
Davidson, B.L.1
Pashmforoush, M.2
Kelley, W.N.3
Palella, T.D.4
-
14
-
-
0027968311
-
Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus
-
Degioanni A, Darlu P (1994). Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus. Eur J Hum Genet 2:166-176.
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 166-176
-
-
Degioanni, A.1
Darlu, P.2
-
15
-
-
0032854745
-
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion
-
De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, et al. (1999). Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum Molec Genet 8:1539-1540.
-
(1999)
Hum Molec Genet
, vol.8
, pp. 1539-1540
-
-
De Jonghe, C.1
Cruts, M.2
Rogaeva, E.A.3
Tysoe, C.4
Singleton, A.5
Vanderstichele, H.6
-
16
-
-
0022550463
-
Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene
-
DiLella AG, Kwok SCM, Ledley FD, Marvit J, Woo SLC (1986). Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry 25:743-749.
-
(1986)
Biochemistry
, vol.25
, pp. 743-749
-
-
DiLella, A.G.1
Kwok, S.C.M.2
Ledley, F.D.3
Marvit, J.4
Woo, S.L.C.5
-
17
-
-
0024562212
-
Nucleotide sequence of the 16S rRNA from Brucella abortus
-
Dorsch M, Moreno E, Stackebrandt E (1989). Nucleotide sequence of the 16S rRNA from Brucella abortus. Nucleic Acids Res 17:1765-1765.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 1765-1765
-
-
Dorsch, M.1
Moreno, E.2
Stackebrandt, E.3
-
18
-
-
0025939939
-
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats
-
Edwards A, Civitello A, Hammond HA, Caskey CT (1991). DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet 49:746-756.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 746-756
-
-
Edwards, A.1
Civitello, A.2
Hammond, H.A.3
Caskey, C.T.4
-
19
-
-
0026551039
-
Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups
-
Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R (1992). Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12:241-253.
-
(1992)
Genomics
, vol.12
, pp. 241-253
-
-
Edwards, A.1
Hammond, H.A.2
Jin, L.3
Caskey, C.T.4
Chakraborty, R.5
-
20
-
-
0030769124
-
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence
-
Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A (1997). Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence. Hum Mutat 10:256-257.
-
(1997)
Hum Mutat
, vol.10
, pp. 256-257
-
-
Elpeleg, O.N.1
Shaag, A.2
Glustein, J.Z.3
Anikster, Y.4
Joseph, A.5
Saada, A.6
-
21
-
-
0032195337
-
The molecular biology of galactosemia
-
Elsas LJ II, Lai K (1998). The molecular biology of galactosemia. Genet Med 1:40-48.
-
(1998)
Genet Med
, vol.1
, pp. 40-48
-
-
Elsas L.J. II1
Lai, K.2
-
22
-
-
0000994440
-
Dopamine receptors and schizophrenia: Contribution of molecular genetics and clinical neuropsychology
-
Emilein G, Maloteaux JM, Geurts M, Owen J (1999). Dopamine receptors and schizophrenia: Contribution of molecular genetics and clinical neuropsychology. J Neuropsychol 2:197-227.
-
(1999)
J Neuropsychol
, vol.2
, pp. 197-227
-
-
Emilein, G.1
Maloteaux, J.M.2
Geurts, M.3
Owen, J.4
-
23
-
-
0033569516
-
Pharmacogenomics: Translating functional genomics into rational therapeutics
-
Evans WE, Relling MV (1999). Pharmacogenomics: Translating functional genomics into rational therapeutics. Science 286:487-491.
-
(1999)
Science
, vol.286
, pp. 487-491
-
-
Evans, W.E.1
Relling, M.V.2
-
24
-
-
0030476825
-
Apolipoprotein E genotype and gender influence response to tarcrine therapy
-
Farlow MR, Lahiri DK, Poirer J (1996). Apolipoprotein E genotype and gender influence response to tarcrine therapy. Ann NY Acad Sci 802:101-110.
-
(1996)
Ann NY Acad Sci
, vol.802
, pp. 101-110
-
-
Farlow, M.R.1
Lahiri, D.K.2
Poirer, J.3
-
25
-
-
0031943549
-
Treatment outcome of tacrine therapy depends on apolipoprotein genotype and gender of the subjects with Alzheimer's disease
-
Farlow MR, Lahiri DK, Poirer J, Davignan J, Hui S (1998). Treatment outcome of tacrine therapy depends on apolipoprotein genotype and gender of the subjects with Alzheimer's disease. Neurology 50:669-677.
-
(1998)
Neurology
, vol.50
, pp. 669-677
-
-
Farlow, M.R.1
Lahiri, D.K.2
Poirer, J.3
Davignan, J.4
Hui, S.5
-
26
-
-
0024398035
-
Localization of the human gene for the E1-alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1-q13.2
-
Fekete G, Plattner R, Crabb DW, Zhang B, Harris RA, Heerema N, Palmer CG (1989). Localization of the human gene for the E1-alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1-q13.2. Cytogenet Cell Genet 50:236-237.
-
(1989)
Cytogenet Cell Genet
, vol.50
, pp. 236-237
-
-
Fekete, G.1
Plattner, R.2
Crabb, D.W.3
Zhang, B.4
Harris, R.A.5
Heerema, N.6
Palmer, C.G.7
-
27
-
-
0033909535
-
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
-
Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, et al. (2000). High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet 66:110-117.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 110-117
-
-
Finckh, U.1
Muller-Thomsen, T.2
Mann, U.3
Eggers, C.4
Marksteiner, J.5
Meins, W.6
-
28
-
-
0026040110
-
Maple syrup urine disease in Mennonites: Evidence that the Y393N mutation in E1-alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex
-
Fisher CR, Chuang JL, Cox RP, Fisher CW, Star RA, Chuang DT (1991a). Maple syrup urine disease in Mennonites: Evidence that the Y393N mutation in E1-alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. J Clin Invest 88:1034-1037.
-
(1991)
J Clin Invest
, vol.88
, pp. 1034-1037
-
-
Fisher, C.R.1
Chuang, J.L.2
Cox, R.P.3
Fisher, C.W.4
Star, R.A.5
Chuang, D.T.6
-
29
-
-
0026071565
-
A 17-bp insertion and a phe215-tocys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34
-
Fisher CW, Lau KS, Fisher CR, Wynn RM, Cox RP, Chuang DT (1991b). A 17-bp insertion and a phe215-tocys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Biochem Biophys Res Commun 174:804-809.
-
(1991)
Biochem Biophys Res Commun
, vol.174
, pp. 804-809
-
-
Fisher, C.W.1
Lau, K.S.2
Fisher, C.R.3
Wynn, R.M.4
Cox, R.P.5
Chuang, D.T.6
-
30
-
-
0027909781
-
Multiplexed biochemical assays with biological chips
-
Fodor SP, Rava RP, Huang XC, Pease AC, Holmes CP, Adams CL (1993). Multiplexed biochemical assays with biological chips. Nature 364:555-556.
-
(1993)
Nature
, vol.364
, pp. 555-556
-
-
Fodor, S.P.1
Rava, R.P.2
Huang, X.C.3
Pease, A.C.4
Holmes, C.P.5
Adams, C.L.6
-
31
-
-
0031697075
-
Identification of Brucella by ribosomal-spacer-region PCR and differentiation of Brucella canis from other Brucella ssp. pathogenic for humans by carbohydrate profiles
-
Fox KF, Fox A, Nagpal M, Steinberg P, Heroux K (1998). Identification of Brucella by ribosomal-spacer-region PCR and differentiation of Brucella canis from other Brucella ssp. pathogenic for humans by carbohydrate profiles. J Clin Microbiol 36:3217-3222.
-
(1998)
J Clin Microbiol
, vol.36
, pp. 3217-3222
-
-
Fox, K.F.1
Fox, A.2
Nagpal, M.3
Steinberg, P.4
Heroux, K.5
-
32
-
-
0023890290
-
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor)
-
Fujimori S, Hidaka Y, Davidson BL, Palella TD, Kelley WN (1988). Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT-Ann Arbor). Hum Genet 79:39-43.
-
(1988)
Hum Genet
, vol.79
, pp. 39-43
-
-
Fujimori, S.1
Hidaka, Y.2
Davidson, B.L.3
Palella, T.D.4
Kelley, W.N.5
-
33
-
-
0023219307
-
Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage
-
Gibbs RA, Caskey CT (1987). Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science 236:303-305.
-
(1987)
Science
, vol.236
, pp. 303-305
-
-
Gibbs, R.A.1
Caskey, C.T.2
-
34
-
-
0026088977
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, et al. (1991). Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349:704-706.
-
(1991)
Nature
, vol.349
, pp. 704-706
-
-
Goate, A.1
Chartier-Harlin, M.C.2
Mullan, M.3
Brown, J.4
Crawford, F.5
Fidani, L.6
-
35
-
-
0034075501
-
Wechsler subscale IQ and subtest profile in early treated phenylketonuria
-
Griffiths PV, Demellweek C, Fay N, Robinson PH, Davidson DC (2000). Wechsler subscale IQ and subtest profile in early treated phenylketonuria. Arch Dis Child 82:209-215.
-
(2000)
Arch Dis Child
, vol.82
, pp. 209-215
-
-
Griffiths, P.V.1
Demellweek, C.2
Fay, N.3
Robinson, P.H.4
Davidson, D.C.5
-
36
-
-
0023036294
-
Molecular genetics of PKU
-
Guttler F, Woo SLC (1986). Molecular genetics of PKU. J Inherit Metab Dis 9(suppl 1):58-68.
-
(1986)
J Inherit Metab Dis
, vol.9
, Issue.SUPPL. 1
, pp. 58-68
-
-
Guttler, F.1
Woo, S.L.C.2
-
37
-
-
0027290048
-
Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders
-
Hagberg BA, Blennow G, Kristiansson B, Stibler H (1993). Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders. Pediatr Neurol 9:255-262.
-
(1993)
Pediatr Neurol
, vol.9
, pp. 255-262
-
-
Hagberg, B.A.1
Blennow, G.2
Kristiansson, B.3
Stibler, H.4
-
38
-
-
0029036922
-
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1
-
Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA (1995). Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. Hum Mutat 6:66-73.
-
(1995)
Hum Mutat
, vol.6
, pp. 66-73
-
-
Hahn, S.H.1
Krasnewich, D.2
Brantly, M.3
Kvittingen, E.A.4
Gahl, W.A.5
-
39
-
-
0026022476
-
Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1
-
Herring WJ, Litwer S, Weber JL, Danner DJ (1991). Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1. Am J Hum Genet 48:342-350.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 342-350
-
-
Herring, W.J.1
Litwer, S.2
Weber, J.L.3
Danner, D.J.4
-
40
-
-
0024954927
-
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation
-
Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D (1989). Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation. Mol Biol Med 6:245-250.
-
(1989)
Mol Biol Med
, vol.6
, pp. 245-250
-
-
Hofman, K.J.1
Antonarakis, S.E.2
Missiou-Tsangaraki, S.3
Boehm, C.D.4
Valle, D.5
-
41
-
-
0025869758
-
Phenylketonuria in US blacks: Molecular analysis of the phenylalanine hydroxylase gene
-
Hofman KJ, Steel G, Kazazian HH, Valle D (1991). Phenylketonuria in US blacks: Molecular analysis of the phenylalanine hydroxylase gene. Am J Hum Genet 48:791-798.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 791-798
-
-
Hofman, K.J.1
Steel, G.2
Kazazian, H.H.3
Valle, D.4
-
42
-
-
0029803499
-
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency
-
Hong YS, Kerr DS, Craigen WJ, Tan J, Pan Y, Lusk M, Patel MS (1996). Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. Hum Molec Genet 5:1925-1930.
-
(1996)
Hum Molec Genet
, vol.5
, pp. 1925-1930
-
-
Hong, Y.S.1
Kerr, D.S.2
Craigen, W.J.3
Tan, J.4
Pan, Y.5
Lusk, M.6
Patel, M.S.7
-
43
-
-
0014085207
-
Clinical variants of galactosemia
-
Hsia D Y-Y (1967). Clinical variants of galactosemia. Metabolism 16:419-437.
-
(1967)
Metabolism
, vol.16
, pp. 419-437
-
-
Hsia, D.Y.-Y.1
-
44
-
-
9344237637
-
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
-
Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, et al. (1996). Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport 7:801-805.
-
(1996)
Neuroreport
, vol.7
, pp. 801-805
-
-
Hutton, M.1
Busfield, F.2
Wragg, M.3
Crook, R.4
Perez-Tur, J.5
Clark, R.F.6
-
45
-
-
19244373921
-
Functional consequences of polymorphism of xenobiotic metabolizing enzymes
-
Ingelman-Sundberd M (1998). Functional consequences of polymorphism of xenobiotic metabolizing enzymes. Toxicol Lett 102-103:155-160.
-
(1998)
Toxicol Lett
, vol.102-103
, pp. 155-160
-
-
Ingelman-Sundberd, M.1
-
46
-
-
0027432264
-
Carbohydrate-deficient glycoprotein syndrome type II
-
Jaeken J, De Cock P, Stibler H, Van Geet C, Kint J, Ramaekers V, Carchon H (1993). Carbohydrate-deficient glycoprotein syndrome type II. J Inherit Metab Dis 16:1041.
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 1041
-
-
Jaeken, J.1
De Cock, P.2
Stibler, H.3
Van Geet, C.4
Kint, J.5
Ramaekers, V.6
Carchon, H.7
-
47
-
-
0033847231
-
A microarray enzyme-linked immunosorbant assay for autoimmune diagnostics
-
Joos TO, Schrenk M, Hopfl P, Kroger K, Chowdhury U, Stoll D et al. (2000). A microarray enzyme-linked immunosorbant assay for autoimmune diagnostics. Electrophoresis 21:2641-2650.
-
(2000)
Electrophoresis
, vol.21
, pp. 2641-2650
-
-
Joos, T.O.1
Schrenk, M.2
Hopfl, P.3
Kroger, K.4
Chowdhury, U.5
Stoll, D.6
-
48
-
-
0032980507
-
A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients
-
Kaufman S (1999). A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients. Proc Natl Acad Sci USA 96:3160-3164.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 3160-3164
-
-
Kaufman, S.1
-
49
-
-
0033656073
-
The impact of genomics on therapeutic drug development
-
Kennedy GC (2000). The impact of genomics on therapeutic drug development. EXS 89:1-10.
-
(2000)
EXS
, vol.89
, pp. 1-10
-
-
Kennedy, G.C.1
-
51
-
-
0034287393
-
General nonlinear framework for the analysis of gene interaction via multivariate expression arrays
-
Kim S, Dougherty ER, Bittner ML, Chen Y, Sivakumar K, Metzer P (2000). General nonlinear framework for the analysis of gene interaction via multivariate expression arrays. J Biomed Optics 5:411-424.
-
(2000)
J Biomed Optics
, vol.5
, pp. 411-424
-
-
Kim, S.1
Dougherty, E.R.2
Bittner, M.L.3
Chen, Y.4
Sivakumar, K.5
Metzer, P.6
-
52
-
-
0031854537
-
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
-
Kjaergaard S, Skovby F, Schwartz M (1998). Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet 6:331-336.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 331-336
-
-
Kjaergaard, S.1
Skovby, F.2
Schwartz, M.3
-
53
-
-
0033389547
-
Carbohydrate-deficient glycoprotein syndrome type 1A: Expression and characterisation of wild type and mutant PMM2 in E. coli
-
Kjaergaard S, Skovby F, Schwartz M (1999). Carbohydrate-deficient glycoprotein syndrome type 1A: Expression and characterisation of wild type and mutant PMM2 in E. coli. Eur J Hum Genet 7:884-888.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 884-888
-
-
Kjaergaard, S.1
Skovby, F.2
Schwartz, M.3
-
54
-
-
0032544336
-
Genetic variation as a guide to drug development
-
Kleyn PW, Vesell ES (1998). Genetic variation as a guide to drug development. Science 281:1820-1821.
-
(1998)
Science
, vol.281
, pp. 1820-1821
-
-
Kleyn, P.W.1
Vesell, E.S.2
-
55
-
-
0032959273
-
Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1
-
Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa L, et al. (1999). Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Clin Genet 55:50-54.
-
(1999)
Clin Genet
, vol.55
, pp. 50-54
-
-
Kondo, I.1
Mizugishi, K.2
Yoneda, Y.3
Hashimoto, T.4
Kuwajima, K.5
Yuasa, L.6
-
56
-
-
0025862159
-
The phenylketonuria locus: Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
-
Konecki DS, Lichter-Konecki U (1991). The phenylketonuria locus: Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet 87:377-388.
-
(1991)
Hum Genet
, vol.87
, pp. 377-388
-
-
Konecki, D.S.1
Lichter-Konecki, U.2
-
57
-
-
0033838334
-
Connectivity: The millennium challenge for point-of-care testing
-
Kost GJ (2000). Connectivity: The millennium challenge for point-of-care testing. Arch Pathol Lab Med 124:1108-1110.
-
(2000)
Arch Pathol Lab Med
, vol.124
, pp. 1108-1110
-
-
Kost, G.J.1
-
58
-
-
0028931177
-
Molecular detection of hepatitis C virus: Impact of detection methodology on clinical and laboratory correlations
-
Krajden M (1995). Molecular detection of hepatitis C virus: Impact of detection methodology on clinical and laboratory correlations. Crit Rev Clin Lab Sci 32:41-66.
-
(1995)
Crit Rev Clin Lab Sci
, vol.32
, pp. 41-66
-
-
Krajden, M.1
-
59
-
-
0032915831
-
Cystathionine beta-synthase mutations in homocystinuria
-
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, et al. (1999). Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat 13:362-375.
-
(1999)
Hum Mutat
, vol.13
, pp. 362-375
-
-
Kraus, J.P.1
Janosik, M.2
Kozich, V.3
Mandell, R.4
Shih, V.5
Sperandeo, M.P.6
-
60
-
-
0033035551
-
Maine Caucasian population DNA database using twelve short tandem repeat loci
-
Kupferschmid TD, Calicchio T, Budowle B (1999). Maine Caucasian population DNA database using twelve short tandem repeat loci. J Forensic Sci 44:392-395.
-
(1999)
J Forensic Sci
, vol.44
, pp. 392-395
-
-
Kupferschmid, T.D.1
Calicchio, T.2
Budowle, B.3
-
61
-
-
0031029549
-
Molecular basis of Duarte and Los Angeles variant galactosemia
-
Langley SD, Lai K, Kembrue PP, Hjelm LN, Elsas LJ (1997). Molecular basis of Duarte and Los Angeles variant galactosemia. Am J Hum Genet 60:366-372.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 366-372
-
-
Langley, S.D.1
Lai, K.2
Kembrue, P.P.3
Hjelm, L.N.4
Elsas, L.J.5
-
62
-
-
0027198870
-
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient
-
Liu T-C, Kim H, Arizmendi C, Kitano A, Patel MS (1993). Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc Natl Acad Sci USA 90:5186-5190.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 5186-5190
-
-
Liu, T.-C.1
Kim, H.2
Arizmendi, C.3
Kitano, A.4
Patel, M.S.5
-
63
-
-
0030966950
-
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview
-
Louis M, Tanguay RM (1997). Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview. Hum Mutat 9:291-299.
-
(1997)
Hum Mutat
, vol.9
, pp. 291-299
-
-
Louis, M.1
Tanguay, R.M.2
-
64
-
-
0031005847
-
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
-
Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman J-J, Van Schaftingen E (1997). Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16:88-92.
-
(1997)
Nat Genet
, vol.16
, pp. 88-92
-
-
Matthijs, G.1
Schollen, E.2
Pardon, E.3
Veiga-da-Cunha, M.4
Jaeken, J.5
Cassiman, J.-J.6
Van Schaftingen, E.7
-
65
-
-
0032759158
-
Phosphomannomutase deficiency: The molecular basis of the classical Jaeken syndrome (CDGS type Ia)
-
Matthijs G, Schollen E, Heykants L, Grunewald S (1999). Phosphomannomutase deficiency: The molecular basis of the classical Jaeken syndrome (CDGS type Ia). Molec Genet Metab 68:220-226.
-
(1999)
Molec Genet Metab
, vol.68
, pp. 220-226
-
-
Matthijs, G.1
Schollen, E.2
Heykants, L.3
Grunewald, S.4
-
66
-
-
0033736282
-
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
-
Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, et al. (2000). Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 16:386-394.
-
(2000)
Hum Mutat
, vol.16
, pp. 386-394
-
-
Matthijs, G.1
Schollen, E.2
Bjursell, C.3
Erlandson, A.4
Freeze, H.5
Imtiaz, F.6
-
67
-
-
0031277472
-
Genetic polymorphisms in human drug metabolic enzymes
-
Miller MS, McCarver DG, Bell DA, Eaton DL, Goldstein JA (1997). Genetic polymorphisms in human drug metabolic enzymes. Fundam Appl Toxicol 40:1-14.
-
(1997)
Fundam Appl Toxicol
, vol.40
, pp. 1-14
-
-
Miller, M.S.1
McCarver, D.G.2
Bell, D.A.3
Eaton, D.L.4
Goldstein, J.A.5
-
68
-
-
0025099643
-
Neurologic crises in hereditary tyrosinemia
-
Mitchell G, Larochelle J, Lambert M, Michaud J, Grenier A, Ogler H, et al. (1990). Neurologic crises in hereditary tyrosinemia. N Engl J Med 322:432-437.
-
(1990)
N Engl J Med
, vol.322
, pp. 432-437
-
-
Mitchell, G.1
Larochelle, J.2
Lambert, M.3
Michaud, J.4
Grenier, A.5
Ogler, H.6
-
69
-
-
0021894152
-
The natural history of homocystinuria due to cystathionine beta-synthase deficiency
-
Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, et al. (1985). The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 37:1-31.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 1-31
-
-
Mudd, S.H.1
Skovby, F.2
Levy, H.L.3
Pettigrew, K.D.4
Wilcken, B.5
Pyeritz, R.E.6
-
70
-
-
0022586676
-
Assignment of the human tyrosine aminotransferase gene to chromosome 16
-
Natt E, Kao F-T, Rettenmeier R, Scherer G (1986). Assignment of the human tyrosine aminotransferase gene to chromosome 16. Hum Genet 72:225-228.
-
(1986)
Hum Genet
, vol.72
, pp. 225-228
-
-
Natt, E.1
Kao, F.-T.2
Rettenmeier, R.3
Scherer, G.4
-
71
-
-
0026701404
-
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II
-
Natt E, Kida K, Odievre M, Di Rocco M, Scherer G (1992). Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci 89:9297-9301.
-
(1992)
Proc Natl Acad Sci
, vol.89
, pp. 9297-9301
-
-
Natt, E.1
Kida, K.2
Odievre, M.3
Di Rocco, M.4
Scherer, G.5
-
72
-
-
0019271594
-
The epidemiology of brucellosis
-
Nicoltti P (1980). The epidemiology of brucellosis. Adv Vet Sci Comp Med 24:69-98.
-
(1980)
Adv Vet Sci Comp Med
, vol.24
, pp. 69-98
-
-
Nicoltti, P.1
-
73
-
-
12244251052
-
The Arctic APP mutation (E693G) causes Alzheimer's disease through a novel mechanism: Increased amyloid β protofibril formation and decreased amyloid β levels in plasma and conditioned media
-
Nilsberth C, Westlind-Danielsson A, Eckman CB, Forsell C, Axelman K, Luthman J, et al. (2000). The Arctic APP mutation (E693G) causes Alzheimer's disease through a novel mechanism: Increased amyloid β protofibril formation and decreased amyloid β levels in plasma and conditioned media. Neurobiol Aging 21(suppl 1):S58.
-
(2000)
Neurobiol Aging
, vol.21
, Issue.SUPPL. 1
-
-
Nilsberth, C.1
Westlind-Danielsson, A.2
Eckman, C.B.3
Forsell, C.4
Axelman, K.5
Luthman, J.6
-
74
-
-
0025911244
-
Maple syrup urine disease: Complete defect of the E1-beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease
-
Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I (1991). Maple syrup urine disease: Complete defect of the E1-beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. J Clin Invest 87:1862-1866.
-
(1991)
J Clin Invest
, vol.87
, pp. 1862-1866
-
-
Nobukuni, Y.1
Mitsubuchi, H.2
Akaboshi, I.3
Indo, Y.4
Endo, F.5
Yoshioka, A.6
Matsuda, I.7
-
75
-
-
0000386847
-
The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria)
-
Paine RS (1957). The variability in manifestations of untreated patients with phenylketonuria (phenylpyruvic aciduria). Pediatrics 20:290-302.
-
(1957)
Pediatrics
, vol.20
, pp. 290-302
-
-
Paine, R.S.1
-
76
-
-
0028979684
-
Mammalian alpha-keto acid dehydrogenase complexes: Gene regulation and genetic defects
-
Patel MS, Harris RA (1995). Mammalian alpha-keto acid dehydrogenase complexes: Gene regulation and genetic defects. FASEB J 9:1164-1172.
-
(1995)
FASEB J
, vol.9
, pp. 1164-1172
-
-
Patel, M.S.1
Harris, R.A.2
-
77
-
-
12244270650
-
Missense mutations in galactosemia
-
Reichardt JKV, Woo SLC (1990). Missense mutations in galactosemia (abstract). Am J Hum Genet 47(suppl):A164.
-
(1990)
Am J Hum Genet
, vol.47
, Issue.SUPPL.
-
-
Reichardt, J.K.V.1
Woo, S.L.C.2
-
78
-
-
0025802632
-
Molecular basis of galactosemia: Mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase
-
Reichardt JKV, Woo SLC (1991). Molecular basis of galactosemia: Mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridyltransferase. Proc Natl Acad Sci USA 88:2633-2637.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 2633-2637
-
-
Reichardt, J.K.V.1
Woo, S.L.C.2
-
79
-
-
0029091672
-
Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome
-
Renwick PJ, Birley AJ, McKeown CME, Hulten M (1995). Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. Clin Genet 48:80-84.
-
(1995)
Clin Genet
, vol.48
, pp. 80-84
-
-
Renwick, P.J.1
Birley, A.J.2
McKeown, C.M.E.3
Hulten, M.4
-
80
-
-
0000508290
-
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence
-
Roest Crollius H, Jaillon O, Bernot A, Dasilva C, Bouneau L, Fischer C, et al. (2000). Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat Genet 25:235-238.
-
(2000)
Nat Genet
, vol.25
, pp. 235-238
-
-
Roest Crollius, H.1
Jaillon, O.2
Bernot, A.3
Dasilva, C.4
Bouneau, L.5
Fischer, C.6
-
81
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, et al. (2001). A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409:928-933.
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
Marth, G.6
-
84
-
-
0002610221
-
The hyperphenylalaninemias
-
Scriver CR, Beaudet AL, Sly WS, Valle D (editors). New York: McGraw-Hill
-
Scriver CR, Kaufman S, Woo SLC (1989). The hyperphenylalaninemias. In: The Metabolic Basis of Inherited Disease, 6th Ed., Scriver CR, Beaudet AL, Sly WS, Valle D (editors). New York: McGraw-Hill. pp. 495-546.
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Ed.
, pp. 495-546
-
-
Scriver, C.R.1
Kaufman, S.2
Woo, S.L.C.3
-
85
-
-
0012182520
-
Pharmacogenomics: Changing the health care paradigm
-
Shi MM, Mehrens D, Dacus K (2001). Pharmacogenomics: Changing the health care paradigm. Modern Drug Discovery 4:27-32.
-
(2001)
Modern Drug Discovery
, vol.4
, pp. 27-32
-
-
Shi, M.M.1
Mehrens, D.2
Dacus, K.3
-
86
-
-
0033930623
-
A multiplex approach to molecular detection of Brucella abortus and/or Mycobacterium boris infection in cattle
-
Sreevatsan S, Bookout JB, Ringpis F, Perumaala S, Ficht TA, Adams LG, et al. (2000). A multiplex approach to molecular detection of Brucella abortus and/or Mycobacterium boris infection in cattle. J Clin Microsc 38:2602-2610.
-
(2000)
J Clin Microsc
, vol.38
, pp. 2602-2610
-
-
Sreevatsan, S.1
Bookout, J.B.2
Ringpis, F.3
Perumaala, S.4
Ficht, T.A.5
Adams, L.G.6
-
87
-
-
0029962436
-
Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I
-
Timmers C, Grompe M (1996). Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. Hum Mutat 7:367-369.
-
(1996)
Hum Mutat
, vol.7
, pp. 367-369
-
-
Timmers, C.1
Grompe, M.2
-
89
-
-
0029585865
-
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
-
Van Schaftingen E, Jaeken J (1995). Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377:318-320.
-
(1995)
FEBS Lett
, vol.377
, pp. 318-320
-
-
Van Schaftingen, E.1
Jaeken, J.2
-
90
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Meyers EW, Li PW, Mural RJ, Sutton GG, et al. (2001). The sequence of the human genome. Science 291:1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Meyers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
-
91
-
-
0025873535
-
Homocystinuria due to 5,10-methylenetetra-hydrofolate reductase deficiency revealed by stroke in adult siblings
-
Visy JM, Le Coz P, Chadefaux B, Fressinaud C, Woimant F, Marquet J, et al. (1991). Homocystinuria due to 5,10-methylenetetra-hydrofolate reductase deficiency revealed by stroke in adult siblings. Neurology 41:1313-1315.
-
(1991)
Neurology
, vol.41
, pp. 1313-1315
-
-
Visy, J.M.1
Le Coz, P.2
Chadefaux, B.3
Fressinaud, C.4
Woimant, F.5
Marquet, J.6
-
92
-
-
0026354633
-
Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene 2 (ACTBP2) detected using the polymerase chain reaction
-
Warne D, Watkins C, Bodfish P, Nyberg K, Spurr NK (1991). Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene 2 (ACTBP2) detected using the polymerase chain reaction. Nucl Acids Res 19:6980.
-
(1991)
Nucl Acids Res
, vol.19
, pp. 6980
-
-
Warne, D.1
Watkins, C.2
Bodfish, P.3
Nyberg, K.4
Spurr, N.K.5
-
93
-
-
0004120124
-
-
New York: Oxford University Press
-
Weber WW (1997). Pharmacogenomics. New York: Oxford University Press.
-
(1997)
Pharmacogenomics
-
-
Weber, W.W.1
-
94
-
-
0021018834
-
Human hypoxanthine-guanine phosphoribosyltransferase: Detection of a mutant allele by restriction endonuclease analysis
-
Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN (1983). Human hypoxanthine-guanine phosphoribosyltransferase: Detection of a mutant allele by restriction endonuclease analysis. J Clin Invest 72:767-772.
-
(1983)
J Clin Invest
, vol.72
, pp. 767-772
-
-
Wilson, J.M.1
Frossard, P.2
Nussbaum, R.L.3
Caskey, C.T.4
Kelley, W.N.5
-
95
-
-
0015258040
-
A case of classical maple syrup urine disease, 'thiamine non-responsive'
-
Wong PWK, Justice P, Smith GF, Hsia DY-Y (1972). A case of classical maple syrup urine disease, 'thiamine non-responsive'. Clin Genet 3:27-33.
-
(1972)
Clin Genet
, vol.3
, pp. 27-33
-
-
Wong, P.W.K.1
Justice, P.2
Smith, G.F.3
Hsia, D.Y.-Y.4
-
96
-
-
0030587906
-
Hepatitis C virus genotypes in the United States: Epidemiology, pathogenicity, and response to interferon therapy
-
Zein NN, Rakela J, Krawitt EL, Reddy KR, Tominga T, Persing DH, Group CS (1996). Hepatitis C virus genotypes in the United States: Epidemiology, pathogenicity, and response to interferon therapy. Ann Int Med 125:634-639.
-
(1996)
Ann Int Med
, vol.125
, pp. 634-639
-
-
Zein, N.N.1
Rakela, J.2
Krawitt, E.L.3
Reddy, K.R.4
Tominga, T.5
Persing, D.H.6
Group, C.S.7
-
97
-
-
0025872190
-
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: The E1-beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31
-
Zneimer SM, Lau KS, Eddy RL, Shows TB, Chuang JL, Chuang DT, Cox RP (1991). Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: The E1-beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31. Genomics 10:740-747.
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(1991)
Genomics
, vol.10
, pp. 740-747
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Zneimer, S.M.1
Lau, K.S.2
Eddy, R.L.3
Shows, T.B.4
Chuang, J.L.5
Chuang, D.T.6
Cox, R.P.7
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