New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease-Reference-Cited by-同舟云学术

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New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease

Published:2014-09 Issue:9 Volume:57 Page:498-502
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Lu Cong-Xia,Qing Lin ,Huang Wen-Qing,Tzeng Chi-Meng

Funder

Xiamen Science and Technology Bureau

Fujian Provincial Science and Technology Grant

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

1. Wilson's disease;Ala;Lancet,2007

2. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin;van den Berghe;Hepatology,2009

3. EASL Clinical Practice Guidelines: Wilson's disease;European Association for the Study of the Liver;J Hepatol,2012

4. Late-onset Wilson's disease;Ferenci;Gastroenterology,2007

5. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients;Gupta;Hum Genet,2005

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1. Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients;Molecular Genetics and Metabolism Reports;2023-09

2. Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease;BMC Gastroenterology;2021-09-01

3. A Novel Mutation of ATP7B Gene in a Case of Wilson Disease;Medicina;2021-01-29

4. Multimodal magnetic resonance imaging analysis in the characteristics of Wilson’s disease: A case report and literature review;Open Life Sciences;2021-01-01

5. Wilson Disease in China;Clinical and Translational Perspectives on WILSON DISEASE;2019

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