Publications:

Intrafamilial Variability of ADPKD.

Kidney International Reports

Lanktree, Matthew B MB; Guiard, Elsa E; Li, Weili W; Akbari, Pedram P; Haghighi, Amirreza A; Iliuta, Ioan-Andrei IA; Shi, Belili B; Chen, Chen C; He, Ning N; Song, Xuewen X; Margetts, Peter J PJ; Ingram, Alistair J AJ; Khalili, Korosh K; Paterson, Andrew D AD; Pei, York Y

Publication Date: 2019-07

Variant appearance in text: PKD1: 11359_11360delAG; P3788fs

PubMed Link: 31317121

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E

Publication Date: 2014-09

Variant appearance in text: PKD1: 11359_11360del; Pro3788fs

PubMed Link: 25333066

Variant Present in the following documents:

• Main text
• mgg30002-0412.pdf

View BVdb publication page