Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene-Reference-Cited by-同舟云学术

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Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene

Published:2020-10-30 Issue:5 Volume:54 Page:478-480
ISSN:1897-4260
Container-title:Neurologia i Neurochirurgia Polska
language:
Short-container-title:Neurol Neurochir Pol.

Author:

Antos Agnieszka,Litwin Tomasz,Skowrońska Marta,Kurkowska-Jastrzębska Iwona,Członkowska Anna

Publisher

VM Media SP. zo.o VM Group SK

Subject

Clinical Neurology,Surgery

Cited by 12 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 mutation spectrum and ethnic distribution of Wilson disease, a review;Molecular Genetics and Metabolism Reports;2024-03

2. Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease;Journal of the Neurological Sciences;2023-05

3. Missing heritability of Wilson disease: a search for the uncharacterized mutations;Mammalian Genome;2022-12-03

4. Pseudocholinesterase as a Biomarker for Untreated Wilson’s Disease;Biomolecules;2022-11-30

5. Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson’s Disease Using a Panel of 14 Common Mutations for the European Population;Genes;2022-10-25

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