Article
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Experimental & molecular medicine - 5 Aug 2016
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
Abstract excerpt
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 involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55...
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