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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105999/
https://www.ncbi.nlm.nih.gov/pubmed/27835667
http://dx.doi.org/10.1371/journal.pone.0166288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105999/
https://www.ncbi.nlm.nih.gov/pubmed/27835667
http://dx.doi.org/10.1371/journal.pone.0166288

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