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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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Detalhes bibliográficos
Main Authors: Trujillano, Daniel, Bullich, Gemma, Ossowski, Stephan, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4190876/
https://ncbi.nlm.nih.gov/pubmed/25333066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.82
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