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Volumn 16, Issue 2, 2006, Pages 139-140

3120 +1G→A: The emirati variant cystic fibrosis

Author keywords

CFTR gene; Cystic fibrosis; Emirates; Variant

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 33745599159     PISSN: 1022386X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (10)
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    • Cystic fibrosis
    • Rimoin DL, Connor JM, Pyeritz RE, edi, 3rd ed. New York: Churchill-Livingstone
    • Cutting GR. Cystic fibrosis. In: Rimoin DL, Connor JM, Pyeritz RE, (edi). Emery and Rimoin's principles and practice of medical genetics. Vol. 2. 3rd ed. New York: Churchill-Livingstone, 1997: 2685-717.
    • (1997) Emery and Rimoin's principles and practice of medical genetics , vol.2 , pp. 2685-2717
    • Cutting, G.R.1
  • 2
    • 77950152834 scopus 로고    scopus 로고
    • The Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation data base. http://www.genet.sickkids.on.ca/cftr/ (accessed Dec. 12, 2005).
    • The Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation data base. http://www.genet.sickkids.on.ca/cftr/ (accessed Dec. 12, 2005).
  • 4
    • 0026780584 scopus 로고
    • Molecular characterization of cystic fibrosis; 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
    • Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, et al. Molecular characterization of cystic fibrosis; 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992; 13:770-6.
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, B.6
  • 5
    • 0027325822 scopus 로고
    • A rapid, efficient and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
    • Costes B, Fanen P, Goossens M, Ghanem N. A rapid, efficient and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 1993; 2: 185-91.
    • (1993) Hum Mutat , vol.2 , pp. 185-191
    • Costes, B.1    Fanen, P.2    Goossens, M.3    Ghanem, N.4
  • 7
    • 16944366526 scopus 로고    scopus 로고
    • Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
    • Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997 ;60:1122-7.
    • (1997) Am J Hum Genet , vol.60 , pp. 1122-1127
    • Macek Jr, M.1    Mackova, A.2    Hamosh, A.3    Hilman, B.C.4    Selden, R.F.5    Lucotte, G.6
  • 8
    • 19244364425 scopus 로고    scopus 로고
    • First report of CFTR mutations in black cystic fibrosis patients of southern African origin
    • Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, et al. First report of CFTR mutations in black cystic fibrosis patients of southern African origin. J Med Genet 1996; 33:802-4.
    • (1996) J Med Genet , vol.33 , pp. 802-804
    • Carles, S.1    Desgeorges, M.2    Goldman, A.3    Thiart, R.4    Guittard, C.5    Kitazos, C.A.6
  • 10
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    • Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G→A in diverse populations
    • Dork T, El-Harith EH, Stuhrmann M, Macek M Jr, Egan M, Cutting GR, et al. Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G→A in diverse populations. Am J Hum Genet 1998; 63: 656-62.
    • (1998) Am J Hum Genet , vol.63 , pp. 656-662
    • Dork, T.1    El-Harith, E.H.2    Stuhrmann, M.3    Macek Jr, M.4    Egan, M.5    Cutting, G.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.