Founder effect of a prevalent phenylketonuria mutation in the Oriental population. - Wikidata - wikimedia - TriplyDB

Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

http://www.wikidata.org/entity/Q37427817

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Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: analysis of the haplotype structure and genealogy Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling.Multiple origins for phenylketonuria in Europe The structural origin of metabolic quantitative diversity.A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening Evidence 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.

http://www.wikidata.org/entity/Q37427817

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

@tr

scientific article published on March 1991

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

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

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Proceedings of the National Academy of Sciences of the United States of America

P1476

Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

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J I Furuyama

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L F Yuan

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M L Harvey

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R C Eisensmith

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S Z Huang

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T Oura

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T Wang

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W H Lo

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Y Okano

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Y T Zeng

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P2860

Gene transfer and expression of human phenylalanine hydroxylase

Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

Molecular genetics of phenylketonuria and its implications.

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

P304

2146-2150

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scholarly article

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10.1073/PNAS.88.6.2146

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6

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1991-03-01T00:00:00Z

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21150163

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2006152

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phenylketonuria

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