Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)
about
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientCloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15A 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 1Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver diseaseUncovering suitable reference proteins for expression studies in human adipose tissue with relevance to obesity.G to A polymorphism in the second exon of the BCL2 gene.Serial transplantation reveals the stem-cell-like regenerative potential of adult mouse hepatocytesGeographical 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.Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locusEfficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type IReprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemiaHepatorenal tyrosinemia.Therapeutic applications of dichloroacetate and the role of glutathione transferase zeta-1.Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.Bg1II RFLP for the human fumarylacetoacetate hydrolase (FAH) gene.KpnI and RsaI RFLPs for the human fumarylacetoacetate hydrolase (FAH) gene.MspI RFLP in the human fumarylacetoacetate hydrolase (FAH) gene.TaqI RFLP for the human fumarylacetoacetate hydrolase (FAH) gene.Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I.Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.Steady-state kinetics and inhibition of anaerobically purified human homogentisate 1,2-dioxygenase.The extent of liver injury determines hepatocyte fate toward senescence or cancer.
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P2860
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)
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1990 nî lūn-bûn
@nan
1990 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1990年の論文
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1990年論文
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1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
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name
Different molecular basis for ...... ereditary tyrosinemia (type I)
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Different molecular basis for ...... ereditary tyrosinemia (type I)
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Different molecular basis for ...... ereditary tyrosinemia (type I)
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Different molecular basis for ...... ereditary tyrosinemia (type I)
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Different molecular basis for ...... ereditary tyrosinemia (type I)
@en
Different molecular basis for ...... ereditary tyrosinemia (type I)
@nl
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Different molecular basis for ...... ereditary tyrosinemia (type I)
@ast
Different molecular basis for ...... ereditary tyrosinemia (type I)
@en
Different molecular basis for ...... ereditary tyrosinemia (type I)
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P2093
P2860
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Different molecular basis for ...... ereditary tyrosinemia (type I)
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P2093
Lescault A
Tanguay RM
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1990-08-01T00:00:00Z