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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Trujillano, Daniel, Bullich, Gemma, Ossowski, Stephan, Ballarín, José, Torra, Roser, Estivill, Xavier, Ars, Elisabet
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Blackwell Publishing Ltd 2014
Pynciau:
Original Articles
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg