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

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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Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: Nature Publishing Group 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007639/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007639/

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