Results 1 to 4 of 4
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TypeTitleAuthor(s)YearViews
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
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Dörk, T; Macek Jr, M; Mekus, F; Tümmler, B; Tzountzouris, J; Casals, T; Krebsová, A; Koudová, M; Sakmaryová, I; Macek Sr, M; 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; Kraus, C; Thamm, B; Nechiporenko, M; Livshits, L; Mosse, N; Tsukerman, G; Kadási, L; RavnikGlavač, M; Glavač, D; Komel, R; Vouk, K; Kučinskas, V; Krumina, A; Teder, M; Kocheva, S; Efremov, GD; Onay, T; Kirdar, B; Malone, G; Schwarz, M; Zhou, Z; Friedman, KJ; Carles, S; Claustres, M; Bozon, D; Verlingue, C; Férec, C; Tzetis, M; Kanavakis, E; Cuppens, H; Bombieri, C; Pignatti, PF; Sangiuolo, F; Jordanova, A; Kusic, J; Radojkovič, D; Sertić, J; Richter, D; Rukavina, AS; Bjorck, E; Strandvik, B; Cardoso, H; Montgomery, M; Nakielna, B; Hughes, D; Estivill, X; Aznarez, I; Tullis, E; Tsui, LC; Zielenski, J2000566
 
A mutation in CFTR produces different phenotypes depending on chromosomal background
Journal:
Nature Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Kiesewetter, S; Macek Jr, M; Davis, C; Curristin, SM; Chu, CS; Graham, C; Shrimpton, AE; Cashman, SM; Tsui, LC; Mickle, J; Amos, J; Highsmith, WE; Shuber, A; Witt, DR; Crystal, RG; Cutting, GR1993470
 
Correlation between genotype and phenotype in patients with cystic fibrosis
Journal:
New England Journal of Medicine
Publisher:
Massachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Hamosh, A; Rosenstein, BJ; Nash, E; Curristin, SM; Cutting, GR; Macek Jr, M; McIntosh, I; Krasnicanova, H; Vavrova, V; Zemkova, D; Keston, M; Brock, DJH; Corey, M; Durie, P; Levison, H; Tsui, LC; Aubin, G; Simard, F; Allard, C1993974
 
Cystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Hamosh, A; King, TM; Rosenstein, BJ; Corey, M; Levison, H; Durie, P; Tsui , LC; Mcintosh, I; Keston, M; Brock, DJH; Macek Jr, M; Zemkova, D; Krasnicanova, H; Vavrova, V; Macek Sr, M; Golder, N; Schwarz, MJ; Super, M; Watson, EK1992102
 
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