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Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease

BACKGROUND & OBJECTIVES: Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in ATP7B, a copper transporter gene, leading to hepatic and neuropsychiatric manifestations due to copper accumulation. If diagnosed early, WD patients can be managed by medicines reducing...

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Detalles Bibliográficos
Autores principales: Mathur, Manjula, Singh, Ekta, Poduval, T.B., Rao, Akkipeddi V.S.S.N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418154/
https://www.ncbi.nlm.nih.gov/pubmed/25900953