Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease
Author:
Affiliation:
1. Nanjing Key Laboratory of Pediatrics; Children's Hospital of Nanjing Medical University; Nanjing China
2. Department of Gastroenterology; Children's Hospital of Nanjing Medical University; Nanjing China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Hepatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/liv.13754/fullpdf
Reference34 articles.
1. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993
2. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene;Petrukhin;Nat Genet,1993
3. Wilson disease: high prevalence in a mountainous area of Crete;Dedoussis;Ann Hum Genet,2005
4. Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach;Olivarez;Ann Hum Genet,2001
5. An epidemiological study of Wilson's disease in the Republic of Ireland;Reilly;J Neurol Neurosurg Psychiatry,1993
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2. Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease;The Journal of Molecular Diagnostics;2023-01
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4. Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing;Frontiers in Medicine;2022-03-21
5. Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease;Hepatology Communications;2022-03-10
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