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

doi:10.1038/ng.2543

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Article

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

Nature genetics - 1 Mar 2013

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

Abstract excerpt

Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We describe the illustrative case of the simple mendelian disorder medullary cystic kidney...

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PMID: 23396133
DOI: 10.1038/ng.2543
PMCID: PMC3901305

Genes

MUC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23396133-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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