Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

✍ Scribed by Kirby, Andrew; Gnirke, Andreas; Jaffe, David B; Barešová, Veronika; Pochet, Nathalie; Blumenstiel, Brendan; Ye, Chun; Aird, Daniel; Stevens, Christine; Robinson, James T; Cabili, Moran N; Gat-Viks, Irit; Kelliher, Edward; Daza, Riza; DeFelice, Matthew; Hůlková, Helena; Sovová, Jana; Vylet'al, Petr; Antignac, Corinne; Guttman, Mitchell; Handsaker, Robert E; Perrin, Danielle; Steelman, Scott; Sigurdsson, Snaevar; Scheinman, Steven J; Sougnez, Carrie; Cibulskis, Kristian; Parkin, Melissa; Green, Todd; Rossin, Elizabeth; Zody, Michael C; Xavier, Ramnik J; Pollak, Martin R; Alper, Seth L; Lindblad-Toh, Kerstin; Gabriel, Stacey; Hart, P Suzanne; Regev, Aviv; Nusbaum, Chad; Kmoch, Stanislav; Bleyer, Anthony J; Lander, Eric S; Daly, Mark J

• Book ID: 120009022
• Publisher: Nature Publishing Group
• Year: 2013
• Tongue: English
• Weight: 796 KB
• Volume: 45
• Category: Article
• ISSN: 1061-4036
• DOI: 10.1038/ng.2543