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Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific reports - 18 Nov 2019

Kim Hyunsuk, Park Hayne Cho, Ryu Hyunjin, Kim Hyunho, Lee Hyun-Seob, Heo Jongho, Lee Chung, Kim Nayoung K D, Park Woong-Yang, Hwang Young-Hwan, Lee Kyu Beck, Oh Kook-Hwan, Oh Yun Kyu, Ahn Curie

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of end-stage renal disease (ESRD). Genetic information is of the utmost importance in understanding pathogenesis of ADPKD. Therefore, this study aimed to demonstrate the genetic characteristics of ADPKD and their effects on renal function in 749 Korean ADPKD subjects from 524 unrelated families. Genetic studies of PKD1/2 were performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31740684
DOI: 10.1038/s41598-019-52474-1
PMCID: PMC6861305

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