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The genetics of Wilson disease

Wilson disease is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due to the marked heterogen...

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Bibliografiske detaljer
Udgivet i:Handb Clin Neurol
Main Authors: CHANG, IRENE J., HAHN, SI HOUN
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5648646/
https://ncbi.nlm.nih.gov/pubmed/28433102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/B978-0-444-63625-6.00003-3
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