Publications:

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

Scientific Reports

Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C

Publication Date: 2019-11-18

Variant appearance in text: PKD1: 8428G>T; Glu2810X

PubMed Link: 31740684

Variant Present in the following documents:

• 41598_2019_52474_MOESM1_ESM.pdf

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Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics

Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M

Publication Date: 2014-04-03

Variant appearance in text: PKD1: 8428G>T; Glu2810X

PubMed Link: 24694054

Variant Present in the following documents:

• Main text
• 1471-2350-15-41.pdf

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Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn

Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC

Publication Date: 2012-05

Variant appearance in text: PKD1: 8428G>T; Glu2810X

PubMed Link: 22383692

Variant Present in the following documents:

• Main text

View BVdb publication page