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Volumn 33, Issue 7, 1996, Pages 623-624

An ovine CFTR variant as a putative cystic fibrosis causing mutation

Author keywords

Animal homologues; CFTR mutations; Cystic fibrosis

Indexed keywords

COMPLEMENTARY DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0030054890     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.7.623     Document Type: Article
Times cited : (8)

References (12)
  • 1
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan J, Rommens J, Kerem BS, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.1    Rommens, J.2    Kerem, B.S.3
  • 2
    • 0025863209 scopus 로고
    • Generation of cAMP-activated chloride currents by expression of CFTR
    • Anderson M, Rich D, Gregory R, Smith A, Welsh M. Generation of cAMP-activated chloride currents by expression of CFTR. Science 1991;251:679-82.
    • (1991) Science , vol.251 , pp. 679-682
    • Anderson, M.1    Rich, D.2    Gregory, R.3    Smith, A.4    Welsh, M.5
  • 3
    • 0028980536 scopus 로고
    • CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP
    • Schwiebert E, Egan M, Hwang TH, et al. CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 1995;81:1063-73.
    • (1995) Cell , vol.81 , pp. 1063-1073
    • Schwiebert, E.1    Egan, M.2    Hwang, T.H.3
  • 4
    • 0026730466 scopus 로고
    • Cystic fibrosis in the mouse by targeted insertional mutagenesis
    • Dorin J, Dickinson P, Alton E, et al. Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature 1992;359:211-15.
    • (1992) Nature , vol.359 , pp. 211-215
    • Dorin, J.1    Dickinson, P.2    Alton, E.3
  • 5
    • 0029153220 scopus 로고
    • Generation and characterization of a ΔF508 cystic fibrosis mouse model
    • Colledge W, Abella B, Southern K, et al. Generation and characterization of a ΔF508 cystic fibrosis mouse model. Nature Genet 1995;10:445-52.
    • (1995) Nature Genet , vol.10 , pp. 445-452
    • Colledge, W.1    Abella, B.2    Southern, K.3
  • 6
    • 0028928196 scopus 로고
    • Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene
    • Tebbutt S, Wardle C, Hill D, Harris A. Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene. Proc Natl Acad Sci USA 1995;92:2293-7.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 2293-2297
    • Tebbutt, S.1    Wardle, C.2    Hill, D.3    Harris, A.4
  • 7
    • 0028258779 scopus 로고
    • Identification of rare and novel mutations in the CFTR genes of CF patients in southern England
    • Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England. Hum Mutat 1994;3:141-51.
    • (1994) Hum Mutat , vol.3 , pp. 141-151
    • Shackleton, S.1    Hull, J.2    Dear, S.3    Seller, A.4    Thomson, A.5    Harris, A.6
  • 8
    • 0025946280 scopus 로고
    • Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene
    • Chalkley G, Harris A. Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene. J Med Genet 1991;28:777-80.
    • (1991) J Med Genet , vol.28 , pp. 777-780
    • Chalkley, G.1    Harris, A.2
  • 9
    • 0001625046 scopus 로고
    • Identification of a new mutation (R297Q) in exon 7 of the CFTR gene in a Northern Ireland family
    • Graham C, Goon P, Hill A, Cutting G, Curristan S, Nevin N. Identification of a new mutation (R297Q) in exon 7 of the CFTR gene in a Northern Ireland family. J Med Genet 1991;28:571.
    • (1991) J Med Genet , vol.28 , pp. 571
    • Graham, C.1    Goon, P.2    Hill, A.3    Cutting, G.4    Curristan, S.5    Nevin, N.6
  • 10
    • 0026864933 scopus 로고
    • Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene
    • Tucker S, Tannahill D, Higgins C. Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 1992;1:77-82.
    • (1992) Hum Mol Genet , vol.1 , pp. 77-82
    • Tucker, S.1    Tannahill, D.2    Higgins, C.3
  • 11
    • 0028807378 scopus 로고
    • French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism
    • Dorval I, Jezequel P, Chauvel B, et al. French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism. Hum Mutat 1995;6:334-5.
    • (1995) Hum Mutat , vol.6 , pp. 334-335
    • Dorval, I.1    Jezequel, P.2    Chauvel, B.3
  • 12
    • 19144362698 scopus 로고
    • A French CF family genetic analysis shows that the R297Q associated with the T7 allele in the intron 8 polypyrimidine track is not involved in the CF disease
    • abst 132
    • Dorval I, Jezequel P, Roussey M, et al. A French CF family genetic analysis shows that the R297Q associated with the T7 allele in the intron 8 polypyrimidine track is not involved in the CF disease. Pediatr Pulmonol 1994;10:216 (abst 132).
    • (1994) Pediatr Pulmonol , vol.10 , pp. 216
    • Dorval, I.1    Jezequel, P.2    Roussey, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.