(Q28288691)

2

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M Brantly

3

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E A Kvittingen

4

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W A Gahl

Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia

5

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language of work or name

English

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publication date

1995

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published in

Human Mutation

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volume

6

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issue

1

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page(s)

66-73

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

Nucleotide sequence of cDNA encoding human fumarylacetoacetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

Neurologic crises in hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

Measurement of protein using bicinchoninic acid

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021

The occurrence of hepatoma in the chronic form of hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060113

7 January 2021