Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Geographical and Ethnic Distri ...... Hereditary Tyrosinemia Type 1

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Geographical and Ethnic Distri ...... Hereditary Tyrosinemia Type 1

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type

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Geographical and Ethnic Distri ...... Hereditary Tyrosinemia Type 1

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Geographical and Ethnic Distri ...... Hereditary Tyrosinemia Type 1

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Geographical and Ethnic Distri ...... Hereditary Tyrosinemia Type 1

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Geographical and Ethnic Distri ...... Hereditary Tyrosinemia Type 1

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P1476

Geographical and Ethnic Distri ...... Hereditary Tyrosinemia Type 1

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P2093

Anne Bergeron

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Francine Lettre

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Geneviève Morrow

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George Gray

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Robert M Tanguay

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Sarah Ball

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Tim Hutchin

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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

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1

Different 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 15

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

Recommendations for the management of tyrosinaemia type 1

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

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43-58

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scholarly article

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10.1007/8904_2014_363

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Francesca Angileri

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2015-02-15T00:00:00Z

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25681080

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4501228

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