Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing-Reference-Cited by-同舟云学术

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

Published:2013-02-10 Issue:3 Volume:45 Page:299-303
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2543.pdf

Reference23 articles.

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2. Castro, A.F. & Coresh, J. CKD surveillance using laboratory data from the population-based National Health and Nutrition Examination Survey (NHANES). Am. J. Kidney Dis. 53, S46–S55 (2009).

3. Christodoulou, K. et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum. Mol. Genet. 7, 905–911 (1998).

4. Wolf, M.T.F. et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum. Genet. 119, 649–658 (2006).

5. Fuchshuber, A. et al. Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. Genomics 72, 278–284 (2001).

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