Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next-Generation Sequencing

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2. However, genetic analysis is complicated by six PKD1 pseudogenes, large gene sizes, and allelic heterogeneity. We developed a new clinical assay for PKD gene analysis using paired-end next-generation sequen...

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Detalhes bibliográficos
Main Authors: Tan, Adrian Y., Michaeel, Alber, Liu, Genyan, Elemento, Olivier, Blumenfeld, Jon, Donahue, Stephanie, Parker, Tom, Levine, Daniel, Rennert, Hanna
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2014
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3937536/
https://ncbi.nlm.nih.gov/pubmed/24374109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2013.10.005
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