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Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the liver an...

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Detalles Bibliográficos
Autores principales: Zali, Narges, Mohebbi, Seyed Reza, Esteghamat, Sahar, Chiani, Mohsen, Haghighi, Mahdi Montazer, Hosseini-Asl, Seyed Mohammad-Kazem, Derakhshan, Faramarz, Mohammad-Alizadeh, Amir-Houshang, Malek-Hosseini, Seyed-Ali, Zali, Mohammad Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269057/
https://www.ncbi.nlm.nih.gov/pubmed/22308153
http://dx.doi.org/10.5812/kowsar.1735143X.762