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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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Библиографические подробности
Главные авторы: Trujillano, Daniel, Bullich, Gemma, Ossowski, Stephan, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Формат: Artigo
Язык:Inglês
Опубликовано: Blackwell Publishing Ltd 2014
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Online-ссылка: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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