Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran

BACKGROUND: Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein cons...

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Detalles Bibliográficos
Autores principales: Manoochehri, J, Masoumi Dehshiri, R, Faraji, H, Mohammadi, S, Dastsooz, H, Moradi, T, Rezaei, E, Sadeghi, Kh, Fardaei, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Sadoughi University of Medical Sciences 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980019/
https://www.ncbi.nlm.nih.gov/pubmed/24734161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980019/
https://www.ncbi.nlm.nih.gov/pubmed/24734161

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