Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease
Author:
Affiliation:
1. Division of Pediatric Gastroenterology, Hepatology and Nutrition, School of Medicine, Seoul National University, Seoul, Korea.
2. Department of Laboratory Medicine, Samsung Medical center, Sung Kyun Kwan University, Seoul, Korea.
Publisher
The Korean Association for the Study of the Liver
Subject
General Medicine
Link
http://synapse.koreamed.org/pdf/10.3350/kjhep.2009.15.3.309
Reference30 articles.
1. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
2. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
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1. A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China;Pediatric Neurology;2023-08
2. The utility of hierarchical genetic testing in paediatric liver disease;Liver International;2022-03-21
3. Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect;Genes;2021-02-25
4. Genetics of Wilson’s disease: a clinical perspective;Indian Journal of Gastroenterology;2012-09-01
5. Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis;Pediatric Gastroenterology, Hepatology & Nutrition;2012
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