(Q40817093)

English

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

scientific article published on 22 January 2001

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

author name string

Bergeron A

1

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

D'Astous M

2

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Timm DE

3

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Tanguay RM

4

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

language of work or name

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publication date

22 January 2001

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

Journal of Biological Chemistry

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Europe PubMed Central

PubMed publication ID

24 September 2017

276

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

18

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

15225-15231

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

On the enzymic defects in hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Liver repopulation for the treatment of metabolic diseases.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Crystal structure and mechanism of a carbon-carbon bond hydrolase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

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/10.1074%2FJBC.M009341200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

An Escherichia coli host strain useful for efficient overproduction of cloned gene products with NaCl as the inducer

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Protein secondary structure and circular dichroism: a practical guide

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M009341200

21 January 2018

Identifiers

10.1074/JBC.M009341200

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 September 2017

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