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3. A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis. Crawford J; Labrinidis A; Carey WF; Nelson PV; Harvey JS; Morris CP Hum Mutat; 1995; 5(1):101-2. PubMed ID: 7537147 [No Abstract] [Full Text] [Related]
4. A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis. Will K; Dörk T; Stuhrmann M; Meitinger T; Bertele-Harms R; Tümmler B; Schmidtke J J Clin Invest; 1994 Apr; 93(4):1852-9. PubMed ID: 7512993 [TBL] [Abstract][Full Text] [Related]
5. Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR. Dörk T; Fislage R; Tümmler B Hum Mutat; 1993; 2(6):489-91. PubMed ID: 7509237 [No Abstract] [Full Text] [Related]
6. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G. Bozon D; Zielenski J; Rininsland F; Tsui LC Hum Mutat; 1994; 3(3):330-2. PubMed ID: 7517268 [No Abstract] [Full Text] [Related]
7. A sequence variation in intron 17B of the cystic fibrosis transmembrane conductance regulator gene. Parad RB; Gerard C Hum Mutat; 1992; 1(3):258-9. PubMed ID: 1284536 [No Abstract] [Full Text] [Related]
8. Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency. Golla A; Deufel A; Aulehla-Scholz C; Böhm I; Hilz B; Meitinger T; Deufel T Hum Mutat; 1994; 3(1):67-8. PubMed ID: 7509684 [No Abstract] [Full Text] [Related]
9. A novel mutation (G1249R) in exon 20 of the CFTR gene. Dijkstra DJ; Scheffer H; Buys CH Hum Mutat; 1994; 4(2):161-2. PubMed ID: 7526929 [No Abstract] [Full Text] [Related]
10. A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews. Shoshani T; Berkun Y; Yahav Y; Augarten A; Bashan N; Rivlin Y; Gazit E; Sereth H; Kerem E; Kerem BS Genomics; 1993 Jan; 15(1):236-7. PubMed ID: 7679367 [No Abstract] [Full Text] [Related]
11. Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene. Sangiuolo F; Lo Cicero S; Maceratesi P; Quattrucci S; Novelli G; Dallapiccola B Hum Mutat; 1993; 2(5):422-4. PubMed ID: 7504970 [No Abstract] [Full Text] [Related]
12. Novel frameshift mutation in exon 4 of CFTR gene. Ivaschenko T; Bakay M; Baranov V Hum Mutat; 1995; 5(2):184-5. PubMed ID: 7538377 [No Abstract] [Full Text] [Related]