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Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

Human mutation - 1 Jan 1996

Timmers C, Grompe M

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8723690
DOI: 10.1002/(SICI)1098-1004(1996)7:4<367::AID-HUMU14>3.0.CO;2-0

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Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.PMID 8723690Read ↗

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.Semantic proximity Read ↗

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.Semantic proximity Read ↗

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Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.Semantic proximity Read ↗

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.Semantic proximity Read ↗

Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.Semantic proximity Read ↗

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