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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S. Dörk T, et al. Among authors: petrova nv. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353
High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Timkovskaya EE, Voronkova AY, Shabalova LA, Kondratyeva EI, Sherman VD, Novoselova OG, Kapranov NI, Zinchenko RA, Ginter EK, Makaov AKh, Kerem B. Petrova NV, et al. J Cyst Fibros. 2016 May;15(3):e28-32. doi: 10.1016/j.jcf.2016.02.003. J Cyst Fibros. 2016. PMID: 26948992 Free article.
Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.
Zinchenko RA, Kadyshev VV, El'chinova GI, Marakhonov AV, Galkina VA, Dadali EL, Khlebnikova OV, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Tanas AS, Strelnikov VV, Polyakov AV, Ginter EK. Zinchenko RA, et al. Int J Mol Epidemiol Genet. 2018 Aug 20;9(4):34-42. eCollection 2018. Int J Mol Epidemiol Genet. 2018. PMID: 30245780 Free PMC article.
583 results