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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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| Publicado no: | Handb Clin Neurol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | 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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