Variable presentations of rare genetic renal interstitial diseases
- PMID: 24509295
- PMCID: PMC3944748
- DOI: 10.2215/CJN.00180114
Variable presentations of rare genetic renal interstitial diseases
Comment on
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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7. Clin J Am Soc Nephrol. 2014. PMID: 24509297 Free PMC article.
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- Bleyer A, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ, Jr, Hodanova K, Petr Vylet'al P, Živná M, Hart TC, Hart PS: Variable clinical presentation of a MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol 9: 527–535, 2014 - PMC - PubMed
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- Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet’al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ: Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 45: 299–303, 2013 - PMC - PubMed
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