Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified-Reference-Cited by-同舟云学术

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified

Published:2021-07-29 Issue:9 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Xiao Zhongyan¹²^ORCID,Yang Yuan¹³,Huang Hui¹,Tang Haiyan¹^ORCID,Liu Liqun⁴,Tang Jianguang⁵,Shi Xiaoliu¹

Affiliation:

1. Department of Medical Genetics The Second Xiangya Hospital, Central South University Changsha Hunan 410011 China

2. Department of Gastroenterology The Second Xiangya Hospital, Central South University Changsha Hunan 410011 China

3. Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) ICU, Peking University Cancer Hospital & Institute Beijing 100142 People’s Republic of China

4. Department of Pediatrics The Second Xiangya Hospital, Central South University Changsha Hunan 410011 China

5. Department of Neurology The Second Xiangya Hospital, Central South University Changsha Hunan 410011 China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1735

Reference26 articles.

1. 8th International Conference on Wilson Disease and Menkes Disease. Leipzig Germany April 16‐18 2001. Abstracts. (2001).Zeitschrift fur Gastroenterologie 39(3) 245–260.

2. Wilson disease with hepatic presentation in an eight-month-old boy

3. Zinc Mono-Therapy in Pre-Symptomatic Chinese Children with Wilson Disease: A Single Center, Retrospective Study

4. Wilson disease in septuagenarian siblings: Raising the bar for diagnosis

5. Wilson's disease

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1. Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane;Frontiers in Neurology;2023-08-23

2. Identification of novel compound ATP7B mutations in a child with rare Wilson disease: A case report;2023-01-11