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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A. Sakuntabhai A, et al. Among authors: kucherlapati r. Nat Genet. 1999 Mar;21(3):271-7. doi: 10.1038/6784. Nat Genet. 1999. PMID: 10080178
A sequence-ready physical map of a region of 12q24.1.
Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, Monk S, Carter S, Ross CJ, Pang J, Twells R, Chamberlain S, Monaco AP, Strachan T, Kucherlapati R. Renault B, et al. Among authors: kucherlapati r. Genomics. 1997 Oct 15;45(2):271-8. doi: 10.1006/geno.1997.4888. Genomics. 1997. PMID: 9344649
Mutations in KERA, encoding keratocan, cause cornea plana.
Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. Pellegata NS, et al. Among authors: kucherlapati r. Nat Genet. 2000 May;25(1):91-5. doi: 10.1038/75664. Nat Genet. 2000. PMID: 10802664
The Cancer Genome Atlas Pan-Cancer analysis project.
Cancer Genome Atlas Research Network; Weinstein JN, Collisson EA, Mills GB, Shaw KR, Ozenberger BA, Ellrott K, Shmulevich I, Sander C, Stuart JM. Cancer Genome Atlas Research Network, et al. Nat Genet. 2013 Oct;45(10):1113-20. doi: 10.1038/ng.2764. Nat Genet. 2013. PMID: 24071849 Free PMC article.
394 results