Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous sequences of PKD1. To date, specific sequencing of PKD1 requires laborious lo...

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Detalles Bibliográficos
Autores principales: Trujillano, Daniel, Bullich, Gemma, Ossowski, Stephan, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190876/
https://www.ncbi.nlm.nih.gov/pubmed/25333066
http://dx.doi.org/10.1002/mgg3.82

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