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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Kowsar
2011
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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 |