메뉴 건너뛰기




Volumn 61, Issue 6, 1997, Pages 1309-1317

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

EID: 0031472356     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301638     Document Type: Article
Times cited : (182)

References (67)
  • 1
    • 0029848852 scopus 로고    scopus 로고
    • Update on nomenclature for human gene mutations
    • Ad Hoc Committee (1996) Update on nomenclature for human gene mutations. Hum Mutat 8:197-202
    • (1996) Hum Mutat , vol.8 , pp. 197-202
  • 2
    • 0027302816 scopus 로고
    • Estimation of the severity of individual hyperphenylalaninemia mutations from untreated serum phenylalanine concentration
    • Apold J, Eiken HG, Froysa KE, Moyzfeldt K (1993) Estimation of the severity of individual hyperphenylalaninemia mutations from untreated serum phenylalanine concentration. Dev Brain Dysfunct 6:109-113
    • (1993) Dev Brain Dysfunct , vol.6 , pp. 109-113
    • Apold, J.1    Eiken, H.G.2    Froysa, K.E.3    Moyzfeldt, K.4
  • 3
    • 0001711681 scopus 로고
    • Studies on phenylketonuria. I. Restriction phenylalanine intake in phenylketonuria
    • Armstrong MD, Tyler FH (1955) Studies on phenylketonuria. I. Restriction phenylalanine intake in phenylketonuria. J Clin Invest 34:565-580
    • (1955) J Clin Invest , vol.34 , pp. 565-580
    • Armstrong, M.D.1    Tyler, F.H.2
  • 4
    • 0028046697 scopus 로고
    • Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria
    • Bénit P, Rey F, Melle D, Munich A, Key J (1994) Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria. Hum Mutat 4:229-231
    • (1994) Hum Mutat , vol.4 , pp. 229-231
    • Bénit, P.1    Rey, F.2    Melle, D.3    Munich, A.4    Key, J.5
  • 6
    • 0003042138 scopus 로고
    • Influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child
    • Bickel H, Gerrard J, Hickmans EM (1954) Influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta Paediatr 43:64-77
    • (1954) Acta Paediatr , vol.43 , pp. 64-77
    • Bickel, H.1    Gerrard, J.2    Hickmans, E.M.3
  • 7
    • 0029829975 scopus 로고    scopus 로고
    • Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria
    • Burgard P, Rupp A, Konecki DS, Trefz FK, Schmidt H, Lichter-Konecki UL (1996) Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr 155:S11-S15
    • (1996) Eur J Pediatr , vol.155
    • Burgard, P.1    Rupp, A.2    Konecki, D.S.3    Trefz, F.K.4    Schmidt, H.5    Lichter-Konecki, U.L.6
  • 8
    • 0029076779 scopus 로고
    • Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity
    • Desviat LR, Pérez B, De Lucca M, Cornejo V, Schmidt B, Ugarte M (1995) Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. Am J Hum Genet 57:337-342
    • (1995) Am J Hum Genet , vol.57 , pp. 337-342
    • Desviat, L.R.1    Pérez, B.2    De Lucca, M.3    Cornejo, V.4    Schmidt, B.5    Ugarte, M.6
  • 10
    • 0029095530 scopus 로고
    • Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity
    • Dianzani I, Knappskog PM (1995) Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity. Hum Mutat 6:247-249
    • (1995) Hum Mutat , vol.6 , pp. 247-249
    • Dianzani, I.1    Knappskog, P.M.2
  • 11
    • 0028109263 scopus 로고
    • Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function
    • Dickson PW, Jennings IG, Cotton RGH (1994) Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function. J Biol Chem 269:20369-20375
    • (1994) J Biol Chem , vol.269 , pp. 20369-20375
    • Dickson, P.W.1    Jennings, I.G.2    Cotton, R.G.H.3
  • 12
    • 0022550463 scopus 로고
    • Molecular structure and polymorphic map of human phenylalanine hydroxylase gene
    • DiLella AG, Kwok SCM, Ledley FD, Marvit J, Woo SLC (1986) Molecular structure and polymorphic map of 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
  • 13
    • 0025808668 scopus 로고
    • Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes
    • Di Silvestre D, Koch R, Groffen J (1991) Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes. Am J Hum Genet 48:1014-1016
    • (1991) Am J Hum Genet , vol.48 , pp. 1014-1016
    • Di Silvestre, D.1    Koch, R.2    Groffen, J.3
  • 15
    • 0030008190 scopus 로고    scopus 로고
    • PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme
    • Eiken HG, Knappskog PM, Apold J, Fiatmark T (1996a) PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Hum Mutat 7:228-238
    • (1996) Hum Mutat , vol.7 , pp. 228-238
    • Eiken, H.G.1    Knappskog, P.M.2    Apold, J.3    Fiatmark, T.4
  • 16
    • 0029679603 scopus 로고    scopus 로고
    • Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway
    • Eiken HG, Knappskog PM, Motzfeldt K, Boman H, Apold J (1996b) Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway. Eur J Pediatr 155:554-560
    • (1996) Eur J Pediatr , vol.155 , pp. 554-560
    • Eiken, H.G.1    Knappskog, P.M.2    Motzfeldt, K.3    Boman, H.4    Apold, J.5
  • 17
    • 0027483322 scopus 로고
    • Expression of rat liver phenylalanine hydroxylase in insect cells and site-directed mutagenesis of putative non-heme iron-binding sites
    • Gibbs BS, Wojchowski D, Benkovic SJ (1993) Expression of rat liver phenylalanine hydroxylase in insect cells and site-directed mutagenesis of putative non-heme iron-binding sites. J Biol Chem 268:8046-8052
    • (1993) J Biol Chem , vol.268 , pp. 8046-8052
    • Gibbs, B.S.1    Wojchowski, D.2    Benkovic, S.J.3
  • 18
    • 0028178619 scopus 로고
    • Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients
    • Guldberg P, Henriksen FF, Thony B, Blau N, Guttler F (1994a) Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 21:453-455
    • (1994) Genomics , vol.21 , pp. 453-455
    • Guldberg, P.1    Henriksen, F.F.2    Thony, B.3    Blau, N.4    Guttler, F.5
  • 19
    • 0030064981 scopus 로고    scopus 로고
    • Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: Implications for diagnosis and genetic counselling
    • Guldberg P, Levy HL, Henriksen KF, Guttler F (1996) Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling. J Med Genet 33:161-164
    • (1996) J Med Genet , vol.33 , pp. 161-164
    • Guldberg, P.1    Levy, H.L.2    Henriksen, K.F.3    Guttler, F.4
  • 20
    • 0028603448 scopus 로고
    • Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency: Inheritance and expression of the hyperphenylalaninaemias
    • Guldberg P, Levy HL, Koch R, Berlin CMJ, Francois B, Henriksen KF, Guttler F (1994b) Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency: inheritance and expression of the hyperphenylalaninaemias. J Inherit Metab Dis 17:645-651
    • (1994) J Inherit Metab Dis , vol.17 , pp. 645-651
    • Guldberg, P.1    Levy, H.L.2    Koch, R.3    Berlin, C.M.J.4    Francois, B.5    Henriksen, K.F.6    Guttler, F.7
  • 21
    • 0028998995 scopus 로고
    • In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: Characterization of seven common mutations
    • Guldberg P, Mikkelsen I, Henriksen KF, Lou HC, Güttler F (1995) In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations. Eur J Pediatr 154:551-556
    • (1995) Eur J Pediatr , vol.154 , pp. 551-556
    • Guldberg, P.1    Mikkelsen, I.2    Henriksen, K.F.3    Lou, H.C.4    Güttler, F.5
  • 22
    • 0027218030 scopus 로고
    • Mutation genotype of mentally retarded patients with phenylketonuria
    • Güttler F, Guldberg P, Henriksen KF (1993) Mutation genotype of mentally retarded patients with phenylketonuria. Dev Brain Dysfunct 6:92-96
    • (1993) Dev Brain Dysfunct , vol.6 , pp. 92-96
    • Güttler, F.1    Guldberg, P.2    Henriksen, K.F.3
  • 23
    • 0023262423 scopus 로고
    • Correlation between polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria
    • Güttler F, Ledley FD, Lidsky AS, DiLella AG, Sullivan SE, Woo SLC (1987) Correlation between polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr 110:68-71
    • (1987) J Pediatr , vol.110 , pp. 68-71
    • Güttler, F.1    Ledley, F.D.2    Lidsky, A.S.3    DiLella, A.G.4    Sullivan, S.E.5    Woo, S.L.C.6
  • 24
    • 0027031676 scopus 로고
    • In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus
    • John SWM, Scriver CR, Laframboise R, Rozen R (1992) In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. Hum Mutat 1: 147-153
    • (1992) Hum Mutat , vol.1 , pp. 147-153
    • John, S.W.M.1    Scriver, C.R.2    Laframboise, R.3    Rozen, R.4
  • 25
    • 0019869334 scopus 로고
    • The molecular basis of dominance
    • Kacser H, Burns JA (1981) The molecular basis of dominance. Genetics 97:639-666
    • (1981) Genetics , vol.97 , pp. 639-666
    • Kacser, H.1    Burns, J.A.2
  • 28
    • 0027415206 scopus 로고
    • Phenylketonuria: Variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote
    • Kleiman S, Vanagaite L, Bernstein L, Schwartz G, Brand N, Elitzur A, Woo SLC, et al (1993) Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote. J Med Genet 30:284-288
    • (1993) J Med Genet , vol.30 , pp. 284-288
    • Kleiman, S.1    Vanagaite, L.2    Bernstein, L.3    Schwartz, G.4    Brand, N.5    Elitzur, A.6    Woo, S.L.C.7
  • 29
    • 0026662218 scopus 로고
    • Structural characterization of the 5′ region of the human phenylalanine hydroxylase gene
    • Konecki DS, Wang Y, Trefz FK, Lichter-Konecki U, Woo SLC (1992) Structural characterization of the 5′ region of the human phenylalanine hydroxylase gene. Biochemistry 31: 8363-8368
    • (1992) Biochemistry , vol.31 , pp. 8363-8368
    • Konecki, D.S.1    Wang, Y.2    Trefz, F.K.3    Lichter-Konecki, U.4    Woo, S.L.C.5
  • 30
    • 0029055131 scopus 로고
    • Further studies of the role of Ser-16 in the regulation of the activity of phenylalanine hydroxylase
    • Kowlessur D, Yang X, Kaufman S (1995) Further studies of the role of Ser-16 in the regulation of the activity of phenylalanine hydroxylase. Proc Nad Acad Sci USA 92: 4743-4747
    • (1995) Proc Nad Acad Sci USA , vol.92 , pp. 4743-4747
    • Kowlessur, D.1    Yang, X.2    Kaufman, S.3
  • 31
    • 0027162092 scopus 로고
    • Correlation of phenotype and genotype in phenylketonuria patients of eastern FGR homozygous for the R408W and R261Q point mutations of the phenylalanine hydroxylase locus
    • Kunert E, Wolf C, Güttler F, Tyfield LA, Rutland P, Bührdel P, Theile H (1993) Correlation of phenotype and genotype in phenylketonuria patients of eastern FGR homozygous for the R408W and R261Q point mutations of the phenylalanine hydroxylase locus. Dev Brain Dysfunct 6:114-119
    • (1993) Dev Brain Dysfunct , vol.6 , pp. 114-119
    • Kunert, E.1    Wolf, C.2    Güttler, F.3    Tyfield, L.A.4    Rutland, P.5    Bührdel, P.6    Theile, H.7
  • 32
    • 0021918515 scopus 로고
    • Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
    • Kwok SCM, Ledley FD, DiLella AG, Robson KJH, Woo SLC (1985) Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 24:556-561
    • (1985) Biochemistry , vol.24 , pp. 556-561
    • Kwok, S.C.M.1    Ledley, F.D.2    DiLella, A.G.3    Robson, K.J.H.4    Woo, S.L.C.5
  • 33
    • 0023805045 scopus 로고
    • Correlative study of mental and biochemical phenotypes in never treated patients with classic phenylketonuria
    • Langenbeck U, Lukas HD, Mench-Hoinowski A, Stenzig KP, Lane JD (1988) Correlative study of mental and biochemical phenotypes in never treated patients with classic phenylketonuria. Brain Dysfunct 1:103-110
    • (1988) Brain Dysfunct , vol.1 , pp. 103-110
    • Langenbeck, U.1    Lukas, H.D.2    Mench-Hoinowski, A.3    Stenzig, K.P.4    Lane, J.D.5
  • 34
    • 0022606741 scopus 로고
    • Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders
    • Ledley FD, Levy HL, Woo SLC (1986) Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders. N Engl J Med 314: 1276-1280
    • (1986) N Engl J Med , vol.314 , pp. 1276-1280
    • Ledley, F.D.1    Levy, H.L.2    Woo, S.L.C.3
  • 35
    • 0022205077 scopus 로고
    • Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria
    • Lidsky AS, Ledley FD, DiLella AG, Kwok SCM, Daiger SP, Robson KJH, Woo SLC (1985) Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet 37:619-634
    • (1985) Am J Hum Genet , vol.37 , pp. 619-634
    • Lidsky, A.S.1    Ledley, F.D.2    DiLella, A.G.3    Kwok, S.C.M.4    Daiger, S.P.5    Robson, K.J.H.6    Woo, S.L.C.7
  • 36
    • 0024549286 scopus 로고
    • Molecular genetics of phenylketonuria in Mediterranean countries: A mutation associated with partial phenylalanine hydroxylase deficiency
    • Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A (1989) Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet 44:511-517
    • (1989) Am J Hum Genet , vol.44 , pp. 511-517
    • Lyonnet, S.1    Caillaud, C.2    Rey, F.3    Berthelon, M.4    Frézal, J.5    Rey, J.6    Munnich, A.7
  • 39
  • 42
    • 0025019368 scopus 로고
    • Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene
    • Okano Y, Wang T, Eisensmith RC, Steinmann B, Gitzelmann R, Woo SLC (1990) Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Am J Hum Genet 46:18-25
    • (1990) Am J Hum Genet , vol.46 , pp. 18-25
    • Okano, Y.1    Wang, T.2    Eisensmith, R.C.3    Steinmann, B.4    Gitzelmann, R.5    Woo, S.L.C.6
  • 43
    • 0001172835 scopus 로고
    • Phenylketonuria: A problem in eugenics
    • Penrose LS (1946) Phenylketonuria: a problem in eugenics. Lancet 1:949-953
    • (1946) Lancet , vol.1 , pp. 949-953
    • Penrose, L.S.1
  • 44
    • 0028131302 scopus 로고
    • Different phenotypic manifestations associated with identical phenylketonuria genotypes in the Spanish families
    • Pérez B, Desviat LR, Garcia MJ, Ugarte M (1994) Different phenotypic manifestations associated with identical phenylketonuria genotypes in the Spanish families. J Inherit Metab Dis 17:377-378
    • (1994) J Inherit Metab Dis , vol.17 , pp. 377-378
    • Pérez, B.1    Desviat, L.R.2    Garcia, M.J.3    Ugarte, M.4
  • 45
    • 0028941116 scopus 로고
    • Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia
    • Pérez B, Lourdes R, Ugarte M (1995) Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. Hum Mutat 5:188-190
    • (1995) Hum Mutat , vol.5 , pp. 188-190
    • Pérez, B.1    Lourdes, R.2    Ugarte, M.3
  • 46
    • 0029670935 scopus 로고    scopus 로고
    • Identification of Gln313 and Pro327 as residues critical for substrate inhibition in tyrosine hydroxylase
    • Quinsey NS, Lenaghan CM, Dickson PW (1997) Identification of Gln313 and Pro327 as residues critical for substrate inhibition in tyrosine hydroxylase. J Neurochem 66:908-914
    • (1997) J Neurochem , vol.66 , pp. 908-914
    • Quinsey, N.S.1    Lenaghan, C.M.2    Dickson, P.W.3
  • 49
    • 0022552607 scopus 로고
    • Quantification of the importance of individual steps in the control of aromatic amino acid metabolism
    • Salter M, Knowles RG, Pogson CI (1986) Quantification of the importance of individual steps in the control of aromatic amino acid metabolism. Biochem J 234:635-647
    • (1986) Biochem J , vol.234 , pp. 635-647
    • Salter, M.1    Knowles, R.G.2    Pogson, C.I.3
  • 50
    • 0025906502 scopus 로고
    • Phenylketonuria - Genotypes and phenotypes
    • Scriver CR (1991) Phenylketonuria - genotypes and phenotypes. N Engl J Med 324:1280-1281
    • (1991) N Engl J Med , vol.324 , pp. 1280-1281
    • Scriver, C.R.1
  • 51
    • 0021932927 scopus 로고
    • Normal plasma free amino acid values in adults: The influence of some common physiological variables
    • Scriver CR, Gregory DM, Sovetts D, Tissenbaum G (1985) Normal plasma free amino acid values in adults: the influence of some common physiological variables. Metabolism 34:868-873
    • (1985) Metabolism , vol.34 , pp. 868-873
    • Scriver, C.R.1    Gregory, D.M.2    Sovetts, D.3    Tissenbaum, G.4
  • 55
    • 0027390018 scopus 로고
    • Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
    • Svensson E, von Dobeln U, Eisensmith RC, Hagenfeldt L, Woo SLC (1993) Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr 152:132-139
    • (1993) Eur J Pediatr , vol.152 , pp. 132-139
    • Svensson, E.1    Von Dobeln, U.2    Eisensmith, R.C.3    Hagenfeldt, L.4    Woo, S.L.C.5
  • 56
    • 0030849458 scopus 로고    scopus 로고
    • Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[U-13C] phenylalanine oxidation rates in vivo: A pilot study
    • Treacy EP, Delente JJ, Elkas G, Carter K, Lambert M, Waters PJ, Scriver CR (1997) Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[U-13C] phenylalanine oxidation rates in vivo: a pilot study. Pediatr Res 42:430-435
    • (1997) Pediatr Res , vol.42 , pp. 430-435
    • Treacy, E.P.1    Delente, J.J.2    Elkas, G.3    Carter, K.4    Lambert, M.5    Waters, P.J.6    Scriver, C.R.7
  • 59
    • 0028868539 scopus 로고
    • Discordant phenylketonuria phenotypes in one family: The relationship between genotypes and clinical outcome is a function of multiple effects
    • Tyfield LA, Zschocke J, Stephenson A, Cockburn F, Harvie A, Bidwell HJL, Wood NAP, et al (1995) Discordant phenylketonuria phenotypes in one family: the relationship between genotypes and clinical outcome is a function of multiple effects. J Med Genet 32:867-870
    • (1995) J Med Genet , vol.32 , pp. 867-870
    • Tyfield, L.A.1    Zschocke, J.2    Stephenson, A.3    Cockburn, F.4    Harvie, A.5    Bidwell, H.J.L.6    Wood, N.A.P.7
  • 60
    • 0031606734 scopus 로고    scopus 로고
    • In vitro expression analysis of mutations in human and rat phenylalanine hydroxylase: Exploring molecular causes of hyperphenylalaninemia
    • Waters J, Parniak MA, Nowacki P, Scriver CR (1998) In vitro expression analysis of mutations in human and rat phenylalanine hydroxylase: exploring molecular causes of hyperphenylalaninemia. Hum Mutat 11:4-17
    • (1998) Hum Mutat , vol.11 , pp. 4-17
    • Waters, J.1    Parniak, M.A.2    Nowacki, P.3    Scriver, C.R.4
  • 61
    • 0027513697 scopus 로고
    • A missense mutation S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria
    • Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, et al (1993) A missense mutation S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria. Hum Genet 90: 645-649
    • (1993) Hum Genet , vol.90 , pp. 645-649
    • Weinstein, M.1    Eisensmith, R.C.2    Abadie, V.3    Avigad, S.4    Lyonnet, S.5    Schwartz, G.6    Munnich, A.7
  • 62
    • 0030078281 scopus 로고    scopus 로고
    • Is there a paradigm shift in genetics? lessons from the study of human diseases
    • Weiss KM (1996) Is there a paradigm shift in genetics? lessons from the study of human diseases. Mol Phylogenet Evol 5: 259-265
    • (1996) Mol Phylogenet Evol , vol.5 , pp. 259-265
    • Weiss, K.M.1
  • 63
    • 0021072277 scopus 로고
    • Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria
    • Woo SLC, Lidsky AS, Güttler F, Chandra T, Robson KJH (1983) Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 306:151-155
    • (1983) Nature , vol.306 , pp. 151-155
    • Woo, S.L.C.1    Lidsky, A.S.2    Güttler, F.3    Chandra, T.4    Robson, K.J.H.5
  • 64
    • 0002424530 scopus 로고
    • Treatment of phenylketonuria with a diet low in phenylalanine
    • Woolf LI, Griffiths R, Moncrieff A (1955) Treatment of phenylketonuria with a diet low in phenylalanine. Br Med J 1: 57-64
    • (1955) Br Med J , vol.1 , pp. 57-64
    • Woolf, L.I.1    Griffiths, R.2    Moncrieff, A.3
  • 65
    • 0027989338 scopus 로고
    • Non phenylketonuria hyperphenylalaninemia in Northern Ireland: Frequent mutation allows screening and early diagnosis
    • Zschocke J, Graham CA, Stewart FJ, Carson DJ, Nevin NC (1994) Non phenylketonuria hyperphenylalaninemia in Northern Ireland: frequent mutation allows screening and early diagnosis. Hum Mutat 4:114-118
    • (1994) Hum Mutat , vol.4 , pp. 114-118
    • Zschocke, J.1    Graham, C.A.2    Stewart, F.J.3    Carson, D.J.4    Nevin, N.C.5
  • 66
    • 0028027497 scopus 로고
    • Phenylketonuria in southern Poland: A new splice mutation in intron 9 at the PAH locus
    • Zygulska AM, Eigel A, Pietrzyk JJ, Horst J (1994) Phenylketonuria in southern Poland: a new splice mutation in intron 9 at the PAH locus. Hum Mutat 4:297-299
    • (1994) Hum Mutat , vol.4 , pp. 297-299
    • Zygulska, A.M.1    Eigel, A.2    Pietrzyk, J.J.3    Horst, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.