Geographic distribution of ATP7B mutations in Wilson disease (Q38553471)

4 September 2017

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title

Geographic distribution of ATP7B mutations in Wilson disease (English)

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4 September 2017

Amanda Gomes

1

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4 September 2017

George V Dedoussis

series ordinal

2

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4 September 2017

language of work or name

English

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publication date

24 July 2015

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4 September 2017

published in

Annals of Human Biology

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4 September 2017

volume

43

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4 September 2017

issue

1

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4 September 2017

page(s)

1-8

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Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

4 September 2017

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Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations

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Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients.

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

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A genetic study of Wilson's disease in the United Kingdom

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The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration

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

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

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Diagnosis and phenotypic classification of Wilson disease

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Late-onset Wilson's disease

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Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus

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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

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Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

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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.

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.

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Ceruloplasmin metabolism and function

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Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system

21 January 2018

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Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.

21 January 2018

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Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis

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Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

21 January 2018

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Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations.

21 January 2018

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

21 January 2018

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

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Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure

21 January 2018

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Wilson disease in children: analysis of 57 cases

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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

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21 January 2018

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Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations

21 January 2018

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21 January 2018

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Oxidative mechanisms in the toxicity of metal ions

21 January 2018

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

21 January 2018

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Current state of Wilson disease patients in central Japan

21 January 2018

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Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B.

21 January 2018

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21 January 2018

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21 January 2018

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Wilson's disease; new oral therapy

21 January 2018

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The conquest of Wilson's disease.

21 January 2018

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PROGRESSIVE LENTICULAR DEGENERATION: A FAMILIAL NERVOUS DISEASE ASSOCIATED WITH CIRRHOSIS OF THE LIVER

21 January 2018

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Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease

21 January 2018

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

21 January 2018

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Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.

21 January 2018

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

21 January 2018

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Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

21 January 2018

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10.3109/03014460.2015.1051492

21 January 2018

Identifiers

DOI

1 reference

4 September 2017

1 reference