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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
BACKGROUND: Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure an...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5853083/ https://www.ncbi.nlm.nih.gov/pubmed/29540233 http://dx.doi.org/10.1186/s13256-018-1608-0 |