Article
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
PloS one - 1 Jan 2016
Kinoshita Moritoshi, Higashihara Eiji, Kawano Haruna, Higashiyama Ryo, Koga Daisuke, Fukui Takafumi, Gondo Nobuhisa, Oka Takehiko, Kawahara Kozo, Rigo Krisztina, Hague Tim, Katsuragi Kiyonori, Sudo Kimiyoshi, Takeshi Masahiko, Horie Shigeo, Nutahara Kikuo
Abstract excerpt
Genetic testing of PKD1 and PKD2 is expected to play an increasingly important role in determining allelic influences in autosomal dominant polycystic kidney disease (ADPKD) in the near future. However, to date, genetic testing is not commonly employed because it is expensive, complicated because of genetic heterogeneity, and does not easily identify pathogenic variants. In this study, we developed a genetic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.