Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
about
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type INovel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decayA missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutationPoint mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1Fungal metabolic model for human type I hereditary tyrosinaemia.Hereditary tyrosinaemia type I: from basics to progress in treatment.Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.Risk and information evaluation of prioritized genes for complex traits: application to bipolar disorder.Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.Molecular Aspects of the FAH Mutations Involved in HT1 Disease.fumarylacetoacetate => fumarate + acetoacetateA Roadmap for Human Liver Differentiation from Pluripotent Stem Cells.
P2860
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P2860
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity
description
1993 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1993
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scientific journal article
@en
vedecký článok (publikovaný 1993/07/01)
@sk
vědecký článek publikovaný v roce 1993
@cs
wetenschappelijk artikel (gepubliceerd op 1993/07/01)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в липні 1993
@uk
مقالة علمية (نشرت في يوليو 1993)
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name
Characterization of the human ...... abolishing enzymatic activity
@ast
Characterization of the human ...... abolishing enzymatic activity
@en
Characterization of the human ...... abolishing enzymatic activity
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type
label
Characterization of the human ...... abolishing enzymatic activity
@ast
Characterization of the human ...... abolishing enzymatic activity
@en
Characterization of the human ...... abolishing enzymatic activity
@nl
prefLabel
Characterization of the human ...... abolishing enzymatic activity
@ast
Characterization of the human ...... abolishing enzymatic activity
@en
Characterization of the human ...... abolishing enzymatic activity
@nl
P2093
P356
P1476
Characterization of the human ...... abolishing enzymatic activity
@en
P2093
B. Leclerc
D. Phaneuf
R. M. Tanguay
Y. Labelle
P304
P356
10.1093/HMG/2.7.941
P407
P577
1993-07-01T00:00:00Z