(Q44120171)

English

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

scientific article published in September 2002

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scholarly article

1 reference

Europe PubMed Central

30 November 2017

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients (English)

1 reference

Europe PubMed Central

30 November 2017

tyrosinemia type I

1 reference

based on heuristic

inferred from title

5

1 reference

Europe PubMed Central

30 November 2017

author name string

Arranz JA

1

1 reference

Europe PubMed Central

30 November 2017

Piñol F

2

1 reference

Europe PubMed Central

30 November 2017

Kozak L

3

1 reference

Europe PubMed Central

30 November 2017

Pérez-Cerdá C

4

1 reference

Europe PubMed Central

30 November 2017

Ugarte M

6

1 reference

Europe PubMed Central

30 November 2017

Riudor E

7

1 reference

Europe PubMed Central

30 November 2017

publication date

1 September 2002

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Europe PubMed Central

30 November 2017

1 reference

Europe PubMed Central

30 November 2017

20

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Europe PubMed Central

30 November 2017

3

1 reference

Europe PubMed Central

30 November 2017

180-188

1 reference

Europe PubMed Central

30 November 2017

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

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/10.1002%2FHUMU.10084

21 January 2018

Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

Self-induced correction of the genetic defect in tyrosinemia type I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

On the enzymic defects in hereditary tyrosinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

Crystal structure and mechanism of a carbon-carbon bond hydrolase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

21 January 2018

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

7 January 2021

based on heuristic

inferred from DOI database lookup

Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

7 January 2021

based on heuristic

inferred from DOI database lookup

Liver transplantation in two children with tyrosinaemia type I: Biochemical aspects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

7 January 2021

based on heuristic

inferred from DOI database lookup

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10084

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10084

1 reference

Europe PubMed Central

30 November 2017

1 reference

Europe PubMed Central

30 November 2017

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