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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Autores principales: Tan, Adrian Y., Michaeel, Alber, Liu, Genyan, Elemento, Olivier, Blumenfeld, Jon, Donahue, Stephanie, Parker, Tom, Levine, Daniel, Rennert, Hanna
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Investigative Pathology 2014
Materias:
Regular Article
Acceso en línea: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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