Author:
Hantash Feras M.,Redman Joy B.,Starn Kelsey,Anderson Ben,Buller Arlene,McGinniss Matthew J.,Quan Franklin,Peng Mei,Sun Weimin,Strom Charles M.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Audrezet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Ferec C (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23:343–357
2. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine MP, Puisieux A, Frebourg T (2002) MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 62:848–853
3. Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M (2000) Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15 kbdel5.3 kb (or CFTR dele19). Clin Chem 46:1417–1420
4. Cutting GR (2002) Cystic fibrosis. In: DL R, JM C, RE P, BR K (eds) Principles and practice of medical genetics, vol 2, 4 edn. Chrchill livingstone, London, pp 2685–2717
5. Dörk T, Macek M Jr, Mekus F, Tummler B, Tzountzouris J, Casals T, Krebsova A, Koudova M, Sakmaryova I, Macek M Sr, Vavrova V, Zemkova D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zekanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S (2000) Characterization of a novel 21-kb deletion, CFTR dele2,3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 106:259–268
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