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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach i...

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Detalles Bibliográficos
Autores principales:	Kang, Hee Gyung, Lee, Hyun Kyung, Ahn, Yo Han, Joung, Je-Gun, Nam, Jaeyong, Kim, Nayoung K D, Ko, Jung Min, Cho, Min Hyun, Shin, Jae Il, Kim, Joon, Park, Hye Won, Park, Young Seo, Ha, Il-Soo, Chung, Woo Yeong, Lee, Dae-Yeol, Kim, Su Young, Park, Woong Yang, Cheong, Hae Il
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007639/ https://www.ncbi.nlm.nih.gov/pubmed/27491411 http://dx.doi.org/10.1038/emm.2016.63

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