Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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P1476

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

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P2093

Geneviève Morrow

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Robert M Tanguay

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P2860

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient

The pathobiology of splicing

A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

Crystal structure and mechanism of a carbon-carbon bond hydrolase

Mechanistic inferences from the crystal structure of fumarylacetoacetate hydrolase with a bound phosphorus-based inhibitor

Crystal structures of Cg1458 reveal a catalytic lid domain and a common catalytic mechanism for the FAH family

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase

P304

25-48

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scholarly article

P356

10.1007/978-3-319-55780-9_3

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P407

English

P478

959

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P50

Francesca Angileri

P577

2017-01-01T00:00:00Z

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P698

28755182

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