Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease (Q36474323)

14 August 2017

Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease (English)

1 reference

14 August 2017

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Xiao-Qing Liu

1

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14 August 2017

Ya-Fen Zhang

2

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14 August 2017

Tze-Tze Liu

3

1 reference

14 August 2017

Kwang-Jen Hsiao

4

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14 August 2017

Jian-Ming Zhang

5

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14 August 2017

Xue-Fan Gu

6

1 reference

14 August 2017

Ke-Rong Bao

7

1 reference

14 August 2017

Li-Hua Yu

8

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14 August 2017

Mei-Xian Wang

9

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14 August 2017

language of work or name

English

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publication date

1 February 2004

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World Journal of Gastroenterology

14 August 2017

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14 August 2017

10

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14 August 2017

4

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14 August 2017

590-593

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

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Haplotype and mutation analysis in Japanese patients with Wilson disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Isolation of new probes in the region of the Wilson disease locus, 13q14.2-->q14.3.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Wilson disease in 1998: genetic, diagnostic and therapeutic aspects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

The Wilson disease gene: spectrum of mutations and their consequences

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4716986

Mutation analysis of Wilson disease in Taiwan and description of six new mutations

21 September 2018

1 reference

12 December 2020

Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR

1 reference

12 December 2020

Identification and analysis of mutations of the Wilson disease gene in Chinese population

1 reference

12 December 2020

Molecular analysis and diagnosis in Japanese patients with Wilson's disease

1 reference

12 December 2020

Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Very high frequency of the His1069Gln mutation in Polish Wilson disease patients

1 reference

12 December 2020

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis

1 reference

12 December 2020

Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association

1 reference

12 December 2020

[Identification of a novel missense mutation in Wilson disease gene]

1 reference

12 December 2020

Two families with Wilson disease in which siblings showed different phenotypes

1 reference

12 December 2020

Frequency of His1069Gln and Gly1267Lys mutations in Polish Wilson's disease population

1 reference

12 December 2020

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease

1 reference

12 December 2020

Common mutations of ATP7B in Wilson disease patients from Hungary

1 reference

12 December 2020

Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing

1 reference

12 December 2020

Identifiers

DOI

10.3748/WJG.V10.I4.590

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14 August 2017

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14 August 2017

PubMed publication ID

14966923

1 reference