A study of Wilson disease mutations in Britain (Q59511792)

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31 October 2019

title

A study of Wilson disease mutations in Britain (English)

1 reference

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31 October 2019

1 reference

Anne Goodeve

5

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Anne C Goodeve

5

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31 October 2019

author name string

Diana Curtis

1

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Miranda Durkie

2

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Pauline Balac (Morris)

3

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Donna Sheard

4

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Ian Peake

6

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Oliver Quarrell

7

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Stuart Tanner

8

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D Curtis

1

1 reference

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31 October 2019

M Durkie

2

1 reference

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31 October 2019

P Balac (Morris)

3

1 reference

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31 October 2019

D Sheard

4

1 reference

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31 October 2019

I Peake

6

1 reference

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31 October 2019

O Quarrell

7

1 reference

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31 October 2019

S Tanner

8

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31 October 2019

publication date

October 1999

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1 January 1999

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31 October 2019

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31 October 2019

volume

14

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31 October 2019

issue

4

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31 October 2019

page(s)

304-311

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The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

31 October 2019

cites work

1 reference

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High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease

21 January 2018

1 reference

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H714Q mutation in Wilson disease is associated with late, neurological presentation

21 January 2018

1 reference

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Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W

Improvement of prenatal diagnosis of Wilson disease using microsatellite markers

21 January 2018

1 reference

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Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients

21 January 2018

1 reference

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Haplotype and mutation analysis in Japanese patients with Wilson disease

21 January 2018

1 reference

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Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

21 January 2018

1 reference

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Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W

The Wilson disease gene: spectrum of mutations and their consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W

Efficient detection of mutations in Wilson disease by manifold sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199910%2914%3A4%3C304%3A%3AAID-HUMU5%3E3.0.CO%3B2-W

10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W

21 January 2018

Identifiers

DOI

1 reference

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31 October 2019

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