Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease
Author:
Funder
Nantong Science and Technology Bureau in 2017
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference19 articles.
1. Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions;Petrukhin;Hum Mol Genet,1994
2. ATP7B gene mutations in Croatian patients with Wilson disease;Ljubić;Genet Test Mol Biomarkers,2016
3. Wilson's disease;Harris;Lancet,2007
4. Human copper transporters: mechanism, role in human diseases and therapeutic potential;Gupta;Future Med Chem,2009
5. Diagnostic and Wilson's disease guidelines;Chin J Neurol,2008
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4. Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review;Frontiers in Medicine;2021-07-26
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