Results 1 to 9 of 9
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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, J2000609
 
Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA→G
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Bozon, D; Zielenski, J; Rininsland, F; Tsui, LC1994141
 
Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G → T and 711 + 1G → T mutations
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Zielenski, J; Bozon, D; Markiewicz, D; Aubin, G; Simard, F; Rommens, JM; Tsui, LC1993363
 
Genetic determination of exocrine pancreatic function in cystic fibrosis
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Kristidis, P; Bozon, D; Corey, M; Markiewicz, D; Rommens, J; Tsui, LC; Durie, P1992277
 
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Zielenski, J; Bozon, D; Kerem, BS; Markiewicz, D; Durie, P; Rommens, JM; Tsui, LC1991386
 
Molecular genetics of cystic fibrosis
Proceedings/Conference:
Advances in Experimental Medicine and Biology
Publisher:
Plenum Press.
Tsui, LC; Rommens, J; Kerem, B; Rozmahel, R; Zielenski, J; Kennedy, D; Markiewicz, D; Plavsic, N; Chou, JL; Bozon, D; Dobbs, M1991206
 
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Zielenski, J; Rozmahel, R; Bozon, D; Kerem, BS; Grzelczak, Z; Riordan, JR; Rommens, J; Tsui, LC1991438
 
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
Journal:
Proceedings of the National Academy of Sciences of the United States of America
Publisher:
National Academy of Sciences. The Journal's web site is located at http://www.pnas.org
Kerem, B; Zielenski, J; Markiewicz, D; Bozon, D; Gazit, E; Yahav, J; Kennedy, D; Riordan, JR; Collins, FS; Rommens, JM; Tsui, LC1990387
 
Unusual segregation of cystic fibrosis alleles [6]
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/nature
Kitzis, A; Chomel, JC; Haliassos, A; Tesson, L; Kaplan, JC; Feingold, J; Giraud, G; Labbe, A; Dastugue, B; Dumur, V; Farriaux, JP; Roussel, P; Ferrec, C; Vidaud, M; Goossens, M; Bozon, D; Auvinet, M; Chambon, V; Andre, J; Lissens, W; Bonduelle, M; Liebaers, I; Cochaux, P; Vassart, G; Willems, P; DuckworthRaysiecki, G; Kerem, BS; Tsui, LC; Ray, PN; Krawczak, M; Schmidtke, J; Novelli, G; Dallapiccola, B; Gasparni, G; Pignatti, PP; Seia, M; Ferrari, M; Devoto, M; Romeo, G; Schwarz, M; Super, M; Ivinson, A; Read, AP; Meredith, L; Curtis, A; Williamson, R; Beaudet, AL; Feldman, GL; O'Brien, WE; Bowcock, AM; CavalliSforza, LL; Gilbert, F; Braman, J; King, MC1988175
 
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