Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

Item
http://www.wikidata.org/entity/Q29544524
Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitorCrystal structures of Cg1458 reveal a catalytic lid domain and a common catalytic mechanism for the FAH familyX-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880Hereditary tyrosinaemia type I: from basics to progress in treatment.The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia.Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type IHypermethioninemias of genetic and non-genetic origin: A review.Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.Cloning and expression of fumarylacetoacetate hydrolase derived from marine yeast Rhodosporidium diobovatum.Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.Sugar suppresses cell death caused by disruption of fumarylacetoacetate hydrolase in Arabidopsis.A GC/MS method for determination of succinylacetone in Arabidopsis thaliana.Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1.Identification of the Missing Links in Prokaryotic Pentose Oxidation Pathways
P2860

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

Item
http://www.wikidata.org/entity/Q29544524
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in the fumarylacetoa ...... y tyrosinemia type I: Overview
@ast
Mutations in the fumarylacetoa ...... y tyrosinemia type I: Overview
@en
type
label
Mutations in the fumarylacetoa ...... y tyrosinemia type I: Overview
@ast
Mutations in the fumarylacetoa ...... y tyrosinemia type I: Overview
@en
prefLabel
Mutations in the fumarylacetoa ...... y tyrosinemia type I: Overview
@ast
Mutations in the fumarylacetoa ...... y tyrosinemia type I: Overview
@en
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P2860
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P1476
Mutations in the fumarylacetoa ...... y tyrosinemia type I: Overview
@en
P2093
P2860
P304
P31
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10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9
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