p.H1069Q mutation inATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease-Reference-Cited by-同舟云学术

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p.H1069Q mutation inATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease

Published:2006 Issue:2 Volume:21 Page:245-248
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Gromadzka Graznya,Schmidt Harmut H.J.,Genschel Janine,Bochow Bettina,Rodo M.,Tarnacka Beatek,Litwin Thomas,Chabik Grzegorz,Członkowska Anna

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference15 articles.

1. Diagnosis and phenotypic classification of Wilson disease1

2. The Wilson's disease gene and phenotypic diversity

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

4. Common mutations of ATP7B in Wilson disease patients from Hungary

5. Detection of the His1069Gln Mutation in Wilson Disease by Rapid Polymerase Chain Reaction

Cited by 63 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population;International Journal of Molecular Sciences;2024-08-28

2. A new Caenorhabditis elegans model to study copper toxicity in Wilson disease;Traffic;2023-10-27

3. Long-term outcome of patients with neurological form of Wilson’s disease compliant to the de-coppering treatment;Journal of Neurology;2023-04-05

4. Wilson’s Disease—Genetic Puzzles with Diagnostic Implications;Diagnostics;2023-03-29

5. Autoantibodies in Wilson disease: Impact on clinical course;JIMD Reports;2022-07-22

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