about
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientDifferent molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15A 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 1Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh.Proteomic profiling of differentially expressed proteins from Bax inhibitor-1 knockout and wild type mice.Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locusSelective loss of a DNase I hypersensitive site upstream of the tyrosine aminotransferase gene in mice homozygous for lethal albino deletions.Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type IHepatorenal tyrosinemia.Visceral pathology of hereditary tyrosinemia type I.Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.DNA ploidy abnormalities in the liver of children with hereditary tyrosinemia type I. Correlation with histopathologic features.Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.Disruption of fumarylacetoacetate hydrolase causes spontaneous cell death under short-day conditions in Arabidopsis.
P2860
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P2860
description
1986 nî lūn-bûn
@nan
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
1986年论文
@zh
1986年论文
@zh-cn
name
Hereditary tyrosinemia type I--an overview.
@en
Hereditary tyrosinemia type I--an overview.
@nl
type
label
Hereditary tyrosinemia type I--an overview.
@en
Hereditary tyrosinemia type I--an overview.
@nl
prefLabel
Hereditary tyrosinemia type I--an overview.
@en
Hereditary tyrosinemia type I--an overview.
@nl
P1476
Hereditary tyrosinemia type I--an overview.
@en
P2093
Kvittingen EA
P577
1986-01-01T00:00:00Z