-
1
-
-
0014289330
-
Purine phosphoribosyltransferase activity of human erythrocytes. Technique of determination [in French]
-
Cartier P, Hamet M: Purine phosphoribosyltransferase activity of human erythrocytes. Technique of determination [in French]. Clin Chim Acta 20: 205-214; 1968
-
(1968)
Clin Chim Acta
, vol.20
, pp. 205-214
-
-
Cartier, P.1
Hamet, M.2
-
2
-
-
0001814559
-
Adenine phos-poribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis
-
8th Ed., edited by Scriver CR, Baudet AL, Sly WS, Valle D, New York, McGraw-Hill Division
-
Sahota AS, Tischfield JA, Kamatani N, Simmonds HA: Adenine phos-poribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: The Metabolic and Molecular Bases of Inherited Disease, 8th Ed., edited by Scriver CR, Baudet AL, Sly WS, Valle D, New York, McGraw-Hill Division, 2001, pp. 2571-2584
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2571-2584
-
-
Sahota, A.S.1
Tischfield, J.A.2
Kamatani, N.3
Simmonds, H.A.4
-
4
-
-
0023736745
-
2,8-Dihydroxya-deninuria: Laboratory diagnosis and therapy control
-
Hesse A, Miersch WD, Classen A, Thon A, Doppler W: 2,8-Dihydroxya- deninuria: Laboratory diagnosis and therapy control. Urol Int 43: 174-178, 1988
-
(1988)
Urol Int
, vol.43
, pp. 174-178
-
-
Hesse, A.1
Miersch, W.D.2
Classen, A.3
Thon, A.4
Doppler, W.5
-
5
-
-
0035346765
-
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction
-
Benedetto B, Madden R, Kurbanov A, Braden G, Freeman J, Lipkowitz GS: Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. Am J Kidney Dis 37: E37, 2001
-
(2001)
Am J Kidney Dis
, vol.37
-
-
Benedetto, B.1
Madden, R.2
Kurbanov, A.3
Braden, G.4
Freeman, J.5
Lipkowitz, G.S.6
-
6
-
-
0027399166
-
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure
-
Fye KH, Sahota A, Hancock DC, Gelb AB, Chen J, Sparks JW, Sibley RK, Tischfield JA: Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Arch Intern Med 153: 767-770, 1993
-
(1993)
Arch Intern Med
, vol.153
, pp. 767-770
-
-
Fye, K.H.1
Sahota, A.2
Hancock, D.C.3
Gelb, A.B.4
Chen, J.5
Sparks, J.W.6
Sibley, R.K.7
Tischfield, J.A.8
-
7
-
-
0024093914
-
2,8-Dihydroxyadenine urolithiasis: Report of a case first diagnosed after renal transplant
-
Glicklich D, Gruber HE, Matas AJ, Tellis VA, Karwa G, Finley K, Salem C, Soberman R, Seegmiller JE: 2,8-Dihydroxyadenine urolithiasis: Report of a case first diagnosed after renal transplant. Q J Med 68: 785-793, 1988
-
(1988)
Q J Med
, vol.68
, pp. 785-793
-
-
Glicklich, D.1
Gruber, H.E.2
Matas, A.J.3
Tellis, V.A.4
Karwa, G.5
Finley, K.6
Salem, C.7
Soberman, R.8
Seegmiller, J.E.9
-
8
-
-
37049037291
-
2,8-Dihydroxyadenine nephrolithia-sis: From diagnosis to therapy [in French]
-
Bouzidi H, Lacour B, Daudon M: 2,8-Dihydroxyadenine nephrolithia-sis: From diagnosis to therapy [in French]. Ann Biol Clin (Paris) 65: 585-592, 2007
-
(2007)
Ann Biol Clin (Paris)
, vol.65
, pp. 585-592
-
-
Bouzidi, H.1
Lacour, B.2
Daudon, M.3
-
9
-
-
0019826535
-
Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT)
-
Doppler W, Hirsch-Kauffmann M, Schabel F, Schweiger M: Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT). Hum Genet 57: 404-410, 1981
-
(1981)
Hum Genet
, vol.57
, pp. 404-410
-
-
Doppler, W.1
Hirsch-Kauffmann, M.2
Schabel, F.3
Schweiger, M.4
-
10
-
-
0034877017
-
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland
-
Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T: Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis 38: 473-480, 2001
-
(2001)
Am J Kidney Dis
, vol.38
, pp. 473-480
-
-
Edvardsson, V.1
Palsson, R.2
Olafsson, I.3
Hjaltadottir, G.4
Laxdal, T.5
-
11
-
-
0023103597
-
Genetic and clinical studies on 19 families with adenine phosphoribosyltrans-ferase deficiencies
-
Kamatani N, Terai C, Kuroshima S, Nishioka K, Mikanagi K: Genetic and clinical studies on 19 families with adenine phosphoribosyltrans-ferase deficiencies. Hum Genet 75: 163-168, 1987
-
(1987)
Hum Genet
, vol.75
, pp. 163-168
-
-
Kamatani, N.1
Terai, C.2
Kuroshima, S.3
Nishioka, K.4
Mikanagi, K.5
-
12
-
-
0023194576
-
Comparative anatomy of the human APRT gene and enzyme: Nucleotide sequence divergence and conservation of a nonran-dom CpG dinucleotide arrangement
-
Broderick TP, Schaff DA, Bertino AM, Dush MK, Tischfield JA, Stam-brook PJ: Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonran-dom CpG dinucleotide arrangement. Proc Natl Acad Sci USA 84: 3349-3353, 1987
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 3349-3353
-
-
Broderick, T.P.1
Schaff, D.A.2
Bertino, A.M.3
Dush, M.K.4
Tischfield, J.A.5
Stam-Brook, P.J.6
-
13
-
-
0026330962
-
Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient
-
Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Cui C, Stambrook PJ, Tischfield JA: Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. Am J Hum Genet 49: 1306-1311, 1991
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1306-1311
-
-
Chen, J.1
Sahota, A.2
Laxdal, T.3
Scrine, M.4
Bowman, S.5
Cui, C.6
Stambrook, P.J.7
Tischfield, J.A.8
-
14
-
-
0035718117
-
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT
-
Deng L, Yang M, Frund S, Wessel T, De Abreu RA, Tischfield JA, Sahota A: 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. Mol Genet Metab 72: 260-264, 2001
-
(2001)
Mol Genet Metab
, vol.72
, pp. 260-264
-
-
Deng, L.1
Yang, M.2
Frund, S.3
Wessel, T.4
De Abreu, R.A.5
Tischfield, J.A.6
Sahota, A.7
-
15
-
-
0023577538
-
Human ade-nine phosphoribosyltransferase: Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme
-
Hidaka Y, Palella TD, O'Toole TE, Tarle SA, Kelley WN: Human ade-nine phosphoribosyltransferase: Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J Clin Invest 80: 1409-1415, 1987
-
(1987)
J Clin Invest
, vol.80
, pp. 1409-1415
-
-
Hidaka, Y.1
Palella, T.D.2
O'Toole, T.E.3
Tarle, S.A.4
Kelley, W.N.5
-
16
-
-
0023856891
-
Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese
-
Hidaka Y, Tarle SA, Fujimori S, Kamatani N, Kelley WN, Palella TD: Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese. J Clin Invest 81: 945-950, 1988
-
(1988)
J Clin Invest
, vol.81
, pp. 945-950
-
-
Hidaka, Y.1
Tarle, S.A.2
Fujimori, S.3
Kamatani, N.4
Kelley, W.N.5
Palella, T.D.6
-
17
-
-
0026637076
-
Only three mutations account for almost all defective alleles causing ade-nine phosphoribosyltransferase deficiency in Japanese patients
-
Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S: Only three mutations account for almost all defective alleles causing ade-nine phosphoribosyltransferase deficiency in Japanese patients. J Clin Invest 90: 130-135, 1992
-
(1992)
J Clin Invest
, vol.90
, pp. 130-135
-
-
Kamatani, N.1
Hakoda, M.2
Otsuka, S.3
Yoshikawa, H.4
Kashiwazaki, S.5
-
18
-
-
0026336567
-
Mutational basis of adenine phosphoribosyltransferase deficiency
-
Sahota A, Chen J, Stambrook PJ, Tischfield JA: Mutational basis of adenine phosphoribosyltransferase deficiency. Adv Exp Med Biol 309B: 73-76, 1991
-
(1991)
Adv Exp Med Biol
, vol.309 B
, pp. 73-76
-
-
Sahota, A.1
Chen, J.2
Stambrook, P.J.3
Tischfield, J.A.4
-
19
-
-
0026576093
-
2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease
-
Ceballos-Picot I, Perignon JL, Hamet M, Daudon M, Kamoun P: 2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet 339: 1050-1051, 1992
-
(1992)
Lancet
, vol.339
, pp. 1050-1051
-
-
Ceballos-Picot, I.1
Perignon, J.L.2
Hamet, M.3
Daudon, M.4
Kamoun, P.5
-
20
-
-
0027655673
-
Urinary calculi: Review of classification methods and correlations with etiology
-
discussion 1104-1106
-
Daudon M, Bader CA, Jungers P. Urinary calculi: Review of classification methods and correlations with etiology. Scanning Microsc 7: 1081-1104, discussion 1104-1106, 1993
-
(1993)
Scanning Microsc
, vol.7
, pp. 1081-1104
-
-
Daudon, M.1
Bader, C.A.2
Jungers, P.3
-
21
-
-
7544222935
-
Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi
-
Daudon M, Jungers P: Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi. Nephron Physiol 98: 31-36, 2004
-
(2004)
Nephron Physiol
, vol.98
, pp. 31-36
-
-
Daudon, M.1
Jungers, P.2
-
22
-
-
1642386029
-
Four consecutive renal transplantations in a patient with adenine phospho-ribosyltransferase deficiency
-
Eller P, Rosenkranz AR, Mark W, Theurl I, Laufer J, Lhotta K: Four consecutive renal transplantations in a patient with adenine phospho-ribosyltransferase deficiency. Clin Nephrol 61: 217-221, 2004
-
(2004)
Clin Nephrol
, vol.61
, pp. 217-221
-
-
Eller, P.1
Rosenkranz, A.R.2
Mark, W.3
Theurl, I.4
Laufer, J.5
Lhotta, K.6
-
23
-
-
7444257374
-
ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention
-
Jungers P, Joly D, Barbey F, Choukroun G, Daudon M: ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention. Am J Kidney Dis 44: 799-805, 2004
-
(2004)
Am J Kidney Dis
, vol.44
, pp. 799-805
-
-
Jungers, P.1
Joly, D.2
Barbey, F.3
Choukroun, G.4
Daudon, M.5
-
24
-
-
32644483320
-
Aprt/Opn double knockout mice: Os-teopontin is a modifier of kidney stone disease severity
-
Vernon HJ, Osborne C, Tzortzaki EG, Yang M, Chen J, Rittling SR, Denhardt DT, Buyske S, Bledsoe SB, Evan AP, Fairbanks L, Simmonds HA, Tischfield JA, Sahota A: Aprt/Opn double knockout mice: Os-teopontin is a modifier of kidney stone disease severity. Kidney Int 68: 938-947, 2005
-
(2005)
Kidney Int
, vol.68
, pp. 938-947
-
-
Vernon, H.J.1
Osborne, C.2
Tzortzaki, E.G.3
Yang, M.4
Chen, J.5
Rittling, S.R.6
Denhardt, D.T.7
Buyske, S.8
Bledsoe, S.B.9
Evan, A.P.10
Fairbanks, L.11
Simmonds, H.A.12
Tischfield, J.A.13
Sahota, A.14
-
25
-
-
0027153307
-
Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87
-
Chen J, Sahota A, Martin GF, Hakoda M, Kamatani N, Stambrook PJ, Tischfield JA: Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87. Mutat Res 287: 217-225, 1993
-
(1993)
Mutat Res
, vol.287
, pp. 217-225
-
-
Chen, J.1
Sahota, A.2
Martin, G.F.3
Hakoda, M.4
Kamatani, N.5
Stambrook, P.J.6
Tischfield, J.A.7
-
26
-
-
0028331526
-
Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis
-
Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA: Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Mol Genet 3: 817-818, 1994
-
(1994)
Hum Mol Genet
, vol.3
, pp. 817-818
-
-
Sahota, A.1
Chen, J.2
Boyadjiev, S.A.3
Gault, M.H.4
Tischfield, J.A.5
-
27
-
-
0025964923
-
A mutant allele common to the type i adenine phosphoribosyl-transferase deficiency in Japanese subjects
-
Mimori A, Hidaka Y, Wu VC, Tarle SA, Kamatani N, Kelley WN, Pallela TD: A mutant allele common to the type I adenine phosphoribosyl-transferase deficiency in Japanese subjects. Am J Hum Genet 48: 103-107, 1991
-
(1991)
Am J Hum Genet
, vol.48
, pp. 103-107
-
-
Mimori, A.1
Hidaka, Y.2
Wu, V.C.3
Tarle, S.A.4
Kamatani, N.5
Kelley, W.N.6
Pallela, T.D.7
-
28
-
-
0026317781
-
A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family
-
Gathof BS, Sahota A, Gresser U, Chen J, Stambrook PS, Tischfield JA, Zollner N: A splice mutation at the adenine phosphoribosyltransferase locus detected in a German family. Adv Exp Med Biol 309B: 83-86, 1991
-
(1991)
Adv Exp Med Biol
, vol.309 B
, pp. 83-86
-
-
Gathof, B.S.1
Sahota, A.2
Gresser, U.3
Chen, J.4
Stambrook, P.S.5
Tischfield, J.A.6
Zollner, N.7
-
29
-
-
0026742417
-
The restriction enzyme Mse i applied for the detection of a possibly common mutation of the APRT locus
-
Gathof BS, Zollner N: The restriction enzyme Mse I applied for the detection of a possibly common mutation of the APRT locus. Clin Investig 70: 535, 1992
-
(1992)
Clin Investig
, vol.70
, pp. 535
-
-
Gathof, B.S.1
Zollner, N.2
-
30
-
-
0030828915
-
Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair
-
Menardi C, Schneider R, Neuschmid-Kaspar F, Klocker H, Hirsch-Kauffmann M, Auer B, Schweiger M: Human APRT deficiency: Indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair. Hum Mutat 10: 251-255, 1997
-
(1997)
Hum Mutat
, vol.10
, pp. 251-255
-
-
Menardi, C.1
Schneider, R.2
Neuschmid-Kaspar, F.3
Klocker, H.4
Hirsch-Kauffmann, M.5
Auer, B.6
Schweiger, M.7
-
31
-
-
0025045872
-
Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation
-
Kamatani N, Kuroshima S, Hakoda M, Palella TD, Hidaka Y: Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation. Hum Genet 85: 600-604, 1990
-
(1990)
Hum Genet
, vol.85
, pp. 600-604
-
-
Kamatani, N.1
Kuroshima, S.2
Hakoda, M.3
Palella, T.D.4
Hidaka, Y.5
-
32
-
-
0025092793
-
Identification of a compound heterozygote for adenine phos-phoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis
-
Kamatani N, Kuroshima S, Yamanaka H, Nakashe S, Take H, Hakoda M: Identification of a compound heterozygote for adenine phos-phoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. Hum Genet 85: 500-504, 1990
-
(1990)
Hum Genet
, vol.85
, pp. 500-504
-
-
Kamatani, N.1
Kuroshima, S.2
Yamanaka, H.3
Nakashe, S.4
Take, H.5
Hakoda, M.6
-
33
-
-
0018143814
-
Adenine and adenosine metabolism in intact erythrocytes deficient in adeno-sine monophosphate-pyrophosphate phosphoribosyltransferase: A study of two families
-
Dean BM, Perrett D, Simmonds HA, Sahota A, Van Acker KJ: Adenine and adenosine metabolism in intact erythrocytes deficient in adeno-sine monophosphate-pyrophosphate phosphoribosyltransferase: A study of two families. Clin Sci Mol Med 55: 407-412, 1978
-
(1978)
Clin Sci Mol Med
, vol.55
, pp. 407-412
-
-
Dean, B.M.1
Perrett, D.2
Simmonds, H.A.3
Sahota, A.4
Van Acker, K.J.5
-
34
-
-
0017397075
-
Adenine phosphoribosyl-transferase: A simple spectrophotometric assay and the incidence of mutation in the normal population
-
Johnson LA, Gordon RB, Emmerson BT: Adenine phosphoribosyl-transferase: A simple spectrophotometric assay and the incidence of mutation in the normal population. Biochem Genet 15: 265-572, 1977
-
(1977)
Biochem Genet
, vol.15
, pp. 265-572
-
-
Johnson, L.A.1
Gordon, R.B.2
Emmerson, B.T.3
-
35
-
-
0015333180
-
Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media
-
Srivastava SK, Villacorte D, Beutler E: Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media. Transfusion 12: 190-197, 1972
-
(1972)
Transfusion
, vol.12
, pp. 190-197
-
-
Srivastava, S.K.1
Villacorte, D.2
Beutler, E.3
-
36
-
-
0026606723
-
2,8-Dihydroxyadenine uroli-thiasis
-
Simmonds H, Van Acker KJ, Sahota AS: 2,8-Dihydroxyadenine uroli-thiasis. Lancet 339: 1295-1296, 1992
-
(1992)
Lancet
, vol.339
, pp. 1295-1296
-
-
Simmonds, H.1
Van Acker, K.J.2
Sahota, A.S.3
-
37
-
-
34147205677
-
Expressing the Modification of Diet in Renal Disease Study equation for estimating glomerular filtration rate with standardized serum creatinine values
-
Levey AS, Coresh J, Greene T, Marsh J, Stevens LA, Kusek JW, Van Lente F: Expressing the Modification of Diet in Renal Disease Study equation for estimating glomerular filtration rate with standardized serum creatinine values. Clin Chem 53: 766-772, 2007
-
(2007)
Clin Chem
, vol.53
, pp. 766-772
-
-
Levey, A.S.1
Coresh, J.2
Greene, T.3
Marsh, J.4
Stevens, L.A.5
Kusek, J.W.6
Van Lente, F.7
-
38
-
-
8844261141
-
Acute renal failure and 2,8-dihydroxyadeninuria [in French]
-
Hoffmann M, Talaszka A, Bocquet J, Le Monies de Sagazan H, Daudon M: Acute renal failure and 2,8-dihydroxyadeninuria [in French]. N é ph-rologie 25: 297-300, 2004
-
(2004)
N é Ph-rologie
, vol.25
, pp. 297-300
-
-
Hoffmann, M.1
Talaszka, A.2
Bocquet, J.3
Le Monies De Sagazan, H.4
Daudon, M.5
-
39
-
-
0028260861
-
Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: The first report of recurrence in a kidney transplant
-
Gagne ER, Deland E, Daudon M, Noel LH, Nawar T: Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: The first report of recurrence in a kidney transplant. Am J Kidney Dis 24: 104-107, 1994
-
(1994)
Am J Kidney Dis
, vol.24
, pp. 104-107
-
-
Gagne, E.R.1
Deland, E.2
Daudon, M.3
Noel, L.H.4
Nawar, T.5
-
40
-
-
0029939972
-
Fourier transform infrared microscopy identification of crystal deposits in tissues: Clinical importance in various pathologies
-
Estepa-Maurice L, Hennequin C, Marfisi C, Bader C, Lacour B, Daudon M: Fourier transform infrared microscopy identification of crystal deposits in tissues: Clinical importance in various pathologies. Am J Clin Pathol 105: 576-582, 1996
-
(1996)
Am J Clin Pathol
, vol.105
, pp. 576-582
-
-
Estepa-Maurice, L.1
Hennequin, C.2
Marfisi, C.3
Bader, C.4
Lacour, B.5
Daudon, M.6
-
41
-
-
67249161053
-
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: Implications for Lesch-Nyhan disease pathogenesis
-
Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA: Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: Implications for Lesch-Nyhan disease pathogenesis. Hum Mol Genet 18: 2317-2327, 2009
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2317-2327
-
-
Ceballos-Picot, I.1
Mockel, L.2
Potier, M.C.3
Dauphinot, L.4
Shirley, T.L.5
Torero-Ibad, R.6
Fuchs, J.7
Jinnah, H.A.8
-
42
-
-
67650090909
-
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltrans-ferase
-
Ea HK, Bardin T, Jinnah HA, Aral B, Liote F, Ceballos-Picot I: Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltrans-ferase. Arthritis Rheum 60: 2201-2204, 2009
-
(2009)
Arthritis Rheum
, vol.60
, pp. 2201-2204
-
-
Ea, H.K.1
Bardin, T.2
Jinnah, H.A.3
Aral, B.4
Liote, F.5
Ceballos-Picot, I.6
-
43
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
Den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15: 7-12, 2000
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
|