Laboratory and clinical evaluation of a microarray for the detection of <i>ATP7B</i> mutations in Wilson disease in China-Reference-Cited by-同舟云学术

Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China

Published:2022-10-17 Issue:11 Volume:36 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:Clinical Laboratory Analysis

Author:

Jia Siyu¹²³^ORCID,Li Xiaojin¹²³,Zhang Wei²³⁴,Zhang Bei¹²³,Wu Zhen²³⁴,Duan Weijia²³⁴,Ou Xiaojuan²³⁴,Zhou Donghu¹²³,Huang Jian¹²³⁴

Affiliation:

1. Experimental Center, Beijing Friendship Hospital Capital Medical University Beijing China

2. Clinical Research Center for Rare Liver Diseases Capital Medical University Beijing China

3. Liver Research Center National Clinical Research Center for Digestive Diseases Beijing China

4. Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Liver Research Center, Beijing Friendship Hospital Capital Medical University Beijing China

Funder

Beijing Natural Science Foundation

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.24735

Reference17 articles.

1. Wilson's disease and other neurological copper disorders

2. Families with Wilson's disease in subsequent generations: Clinical and genetic analysis

3. Diagnosis and phenotypic classification of Wilson disease1

4. Wilson disease

5. Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants

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1. The mutation spectrum and ethnic distribution of Wilson disease, a review;Molecular Genetics and Metabolism Reports;2024-03