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RPGR mutations might cause reduced orientation of respiratory cilia.
Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan L, Pogorzelski A, Martin J, Haan E, Berger W, Omran H, Witt M. Bukowy-Bieryłło Z, et al. Among authors: pogorzelski a. Pediatr Pulmonol. 2013 Apr;48(4):352-63. doi: 10.1002/ppul.22632. Epub 2012 Aug 6. Pediatr Pulmonol. 2013. PMID: 22888088
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: pogorzelski a. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353
Mild CFTR mutations and genetic predisposition to lactase persistence in cystic fibrosis.
Mądry E, Fidler E, Sobczyńska-Tomaszewska A, Lisowska A, Krzyżanowska P, Pogorzelski A, Minarowski Ł, Oralewska B, Mojs E, Sapiejka E, Marciniak R, Sands D, Korzon-Burakowska A, Kwiecień J, Walkowiak J. Mądry E, et al. Among authors: pogorzelski a. Eur J Hum Genet. 2011 Jul;19(7):748-52. doi: 10.1038/ejhg.2011.36. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407263 Free PMC article.
75 results