Publications:

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Human Mutation

Borràs, Daniel M DM; Vossen, Rolf H A M RHAM; Liem, Michael M; Buermans, Henk P J HPJ; Dauwerse, Hans H; van Heusden, Dave D; Gansevoort, Ron T RT; den Dunnen, Johan T JT; Janssen, Bart B; Peters, Dorien J M DJM; Losekoot, Monique M; Anvar, Seyed Yahya SY

Publication Date: 2017-07

Variant appearance in text: PKD1: 4069del

PubMed Link: 28378423

Variant Present in the following documents:

• HUMU-38-870-s001.pdf

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Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation

Reed, Berenice B; McFann, Kim K; Kimberling, William J WJ; Pei, York Y; Gabow, Patricia A PA; Christopher, Karen K; Petersen, Eric E; Kelleher, Catherine C; Fain, Pamela R PR; Johnson, Ann A; Schrier, Robert W RW

Publication Date: 2008-12

Variant appearance in text: PKD1: 4069delC; Leu1357TrpfsX9

PubMed Link: 18640754

Variant Present in the following documents:

• Main text

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