(Q34540834)

2 August 2017

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title

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing (English)

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2 August 2017

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Peter Ferenci

1

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2 August 2017

language of work or name

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22 June 2006

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2 August 2017

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2 August 2017

volume

120

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2 August 2017

issue

2

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2 August 2017

page(s)

151-159

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https://scigraph.springernature.com/pub.10.1007/s00439-006-0202-5

2 August 2017

exact match

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cites work

Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-006-0202-5

High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study

21 January 2018

1 reference

12 December 2020

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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12 December 2020

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

1 reference

12 December 2020

Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology

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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

The Wilson disease gene: spectrum of mutations and their consequences

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12 December 2020

Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites.

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.

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12 December 2020

A study of Wilson disease mutations in Britain

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12 December 2020

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease

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12 December 2020

Diagnosis and phenotypic classification of Wilson disease

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12 December 2020

Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis

1 reference

12 December 2020

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

1 reference

12 December 2020

Wilson's disease in patients presenting with liver disease: a diagnostic challenge.

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

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

1 reference

12 December 2020

Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population

1 reference

12 December 2020

Copper-Induced Conformational Changes in the N-Terminal Domain of the Wilson Disease Copper-Transporting ATPase†

1 reference

12 December 2020

Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

1 reference

12 December 2020

Rapid Identification of Wilson's Disease Carriers by Denaturing High-Performance Liquid Chromatography

1 reference

12 December 2020

Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase

1 reference

12 December 2020

Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population

1 reference

12 December 2020

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.

1 reference

12 December 2020

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

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12 December 2020

Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach

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12 December 2020

An epidemiological study of Wilson's disease in the Republic of Ireland

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12 December 2020

Common mutations of ATP7B in Wilson disease patients from Hungary

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12 December 2020

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

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12 December 2020

Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia

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12 December 2020

Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype

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12 December 2020

A novel RNA splicing mutation in Japanese patients with Wilson disease

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12 December 2020

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

1 reference

12 December 2020

A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations

1 reference

12 December 2020

10.1007/S00439-006-0202-5

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

1041698186

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