Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
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Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientStructure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuriaSpatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogyThree prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.Multiple origins for phenylketonuria in EuropeThe structural origin of metabolic quantitative diversity.A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn ScreeningEvidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
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P2860
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
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article científic
@ca
article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 1991
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
@en
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
@nl
type
label
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
@en
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
@nl
prefLabel
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
@en
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
@nl
P2093
P2860
P356
P1476
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
@en
P2093
J I Furuyama
M L Harvey
R C Eisensmith
P2860
P304
P356
10.1073/PNAS.88.6.2146
P407
P577
1991-03-01T00:00:00Z