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3. Method for rapid, single reaction, direct screening of the delta F508 cystic fibrosis microdeletion. Whetsell L; Shaefer F Biotechniques; 1992 May; 12(5):698, 701. PubMed ID: 1515137 [No Abstract] [Full Text] [Related]
4. 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]
5. [A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients]. Orozco L; Lezana JL; Chávez M; Valdez H; Moreno M; Carnevale A Bol Med Hosp Infant Mex; 1993 Jul; 50(7):457-62. PubMed ID: 7689846 [TBL] [Abstract][Full Text] [Related]
6. Cystic fibrosis: relationship between clinical status and F508 deletion. Campbell PW; Phillips JA; Krishnamani MR; Maness KJ; Hazinski TA J Pediatr; 1991 Feb; 118(2):239-41. PubMed ID: 1993951 [No Abstract] [Full Text] [Related]
7. Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island. Bienvenu T; Bousquet S; Herbulot C; Cartault F; Kaplan JC; Beldjord C Hum Mutat; 1993; 2(4):306-8. PubMed ID: 7691353 [TBL] [Abstract][Full Text] [Related]
8. [Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap]. Bienvenu T; Bousquet S; Souville I; Beldjord C Ann Biol Clin (Paris); 1999; 57(6):741-2. PubMed ID: 10572229 [No Abstract] [Full Text] [Related]
9. Detection of delta F508 cystic fibrosis mutation by polymerase chain reaction from old paraffin-embedded tissues: a retrospective autopsy study. Palacios J; Ezquieta B; Gamallo C; Limeres MA; Benito N; Rodriguez JI; Molano J Mod Pathol; 1994 Apr; 7(3):392-5. PubMed ID: 8058714 [TBL] [Abstract][Full Text] [Related]
10. Identification of the I507 deletion by site-directed mutagenesis. Orozco L; Friedman K; Chávez M; Lezana JL; Villarreal MT; Carnevale A Am J Med Genet; 1994 Jun; 51(2):137-9. PubMed ID: 8092189 [TBL] [Abstract][Full Text] [Related]
11. Detection of delta F508 mutation of the cystic fibrosis gene by matrix-assisted laser desorption/ionization mass spectrometry. Ch'ang LY; Tang K; Schell M; Ringelberg C; Matteson KJ; Allman SL; Chen CH Rapid Commun Mass Spectrom; 1995; 9(9):772-4. PubMed ID: 7655070 [TBL] [Abstract][Full Text] [Related]
12. Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction. Fang P; Bouma S; Jou C; Gordon J; Beaudet AL Hum Mutat; 1995; 6(2):144-51. PubMed ID: 7581398 [TBL] [Abstract][Full Text] [Related]
13. Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene. Bienvenu T; Lenoir G; Fonknechten N; Desclaux-Arramond F; Kaplan JC; Beldjord C Hum Mutat; 1994; 3(1):69-70. PubMed ID: 7509685 [No Abstract] [Full Text] [Related]
14. A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online. Lerer I; Laufer-Cahana A; Rivlin JR; Augarten A; Abeliovich D Hum Mutat; 1999; 13(4):337. PubMed ID: 10220150 [TBL] [Abstract][Full Text] [Related]
15. A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory. Wall J; Cai S; Chehab FF Hum Mutat; 1995; 5(4):333-8. PubMed ID: 7627189 [TBL] [Abstract][Full Text] [Related]
16. A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction. Dörk T; Will K; Grade K; Krawczak M; Tümmler B Hum Mutat; 1994; 4(1):65-70. PubMed ID: 7524915 [TBL] [Abstract][Full Text] [Related]
17. Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina. Roqué M; Godoy CP; Castellanos M; Pusiol E; Mayorga LS Hum Mutat; 2001 Aug; 18(2):167. PubMed ID: 11462248 [TBL] [Abstract][Full Text] [Related]
18. Relatively high prevalence of the CFTR mutations, G85E and 1154insTC. Friedman KJ; Blalock ML; Heim RA; Silverman LM Hum Mutat; 1995; 6(1):95-6. PubMed ID: 7550243 [No Abstract] [Full Text] [Related]
19. [Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation]. Coto E; Bousoño C; Menéndez MJ; Cue R; Toral JF; Benavides A; Hernando I; Plasencia A; López-Larrea C Med Clin (Barc); 1994 Nov; 103(18):681-3. PubMed ID: 7808073 [TBL] [Abstract][Full Text] [Related]
20. Human Genome Project and cystic fibrosis--a symbiotic relationship. Tolstoi LG; Smith CL J Am Diet Assoc; 1999 Nov; 99(11):1421-7. PubMed ID: 10570680 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]