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...

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Detalles Bibliográficos
Autores principales: Daneshjoo, Omid, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
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

Internet

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

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