Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease (Q35714770)

9 August 2017

title

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. (English)

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9 August 2017

Narges Zali

1

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9 August 2017

Seyed Reza Mohebbi

2

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9 August 2017

Sahar Esteghamat

3

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9 August 2017

Mohsen Chiani

4

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9 August 2017

Mahdi Montazer Haghighi

5

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9 August 2017

Seyed Mohammad-Kazem Hosseini-Asl

6

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9 August 2017

Faramarz Derakhshan

7

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9 August 2017

Amir-Houshang Mohammad-Alizadeh

8

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9 August 2017

Seyed-Ali Malek-Hosseini

9

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9 August 2017

Mohammad Reza Zali

10

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9 August 2017

language of work or name

English

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publication date

30 November 2011

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9 August 2017

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9 August 2017

volume

11

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9 August 2017

issue

11

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9 August 2017

page(s)

890-894

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A study of clinical, MRI and multimodality evoked potentials in neurologic Wilson disease

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

Mutation analysis of Wilson disease in the Spanish population - identification of a prevalent substitution and eight novel mutations in the ATP7B gene

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269057

Long Range Restriction Mapping of 13q14.3 Focused on the Wilson Disease Region

7 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease

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

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

10.5812/KOWSAR.1735143X.762

Identifiers

DOI

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9 August 2017

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9 August 2017

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