A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical pres...

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Detalles Bibliográficos
Autores principales: Kahraman, Cigdem Yuce, Islek, Ali, Tatar, Abdulgani, Özdemir, Özlem, Mardinglu, Adil, Turkez, Hasan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912016/
https://www.ncbi.nlm.nih.gov/pubmed/33573009
http://dx.doi.org/10.3390/medicina57020123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912016/
https://www.ncbi.nlm.nih.gov/pubmed/33573009
http://dx.doi.org/10.3390/medicina57020123

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