| 1 | MCKD1, MUC1
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| Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
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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.
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| Nat Genet 45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10.
2013
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| 2 | MCKD1
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| Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
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| Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, Karle SM, Otto EA, Deltas CC, Fuchshuber A, Hildebrandt F.
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| Hum Genet 119(6):649-58. Epub 2006 Apr 26. 2006
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| 3 | MCKD1
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| Telomeric refinement of the MCKD1 locus on chromosome 1q21.
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| Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F.
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| Kidney Int 66(2):580-5. 2004
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| 4 | MCKD1
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| Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.
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| Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC.
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| Kidney Int 62(4):1385-94. Erratum in: Kidney Int 2002 Nov;62(5):1920.. 2002
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| 5 | BLOM7, HAX1, MCKD1, SYT11, TPM3, UBAP2L
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| 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.
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| Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, Burton C, Rahman N, Koptides M, Deltas C, Otto E, Ruschendorf F, Feest T, Hildebrandt F.
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| Genomics 72(3):278-84. 2001
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| 6 | MCKD1, D1S1153, D1S1156, D1S1595, D1S2125, D1S498, D1S514
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| Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD).
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| Christodoulou K, et al.
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| Hum Mol Genet 7 : 905-911. 1998
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