메뉴 건너뛰기




Volumn 50, Issue 11, 2004, Pages 2155-2157

Multimutational analysis of eleven cystic fibrosis mutations common in the Mediterranean areas

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 7044227999     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.032300     Document Type: Article
Times cited : (5)

References (9)
  • 1
    • 0003452177 scopus 로고    scopus 로고
    • Cystic Fibrosis Consortium. Cystic fibrosis mutation database. http://www.genet.sickkids.on.ca/cftr (accessed March 2004).
    • Cystic Fibrosis Mutation Database
  • 2
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla JL, Macek M, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002;19:576-606.
    • (2002) Hum Mutat , vol.19 , pp. 576-606
    • Bobadilla, J.L.1    Macek, M.2    Fine, J.P.3    Farrell, P.M.4
  • 3
    • 0031433107 scopus 로고    scopus 로고
    • High heterogeneity for cystic fibrosis in Spanish families: 75 Mutations account for 90% of chromosomes
    • Casals T, Ramos MD, Gimenez J, Larriba S, Nunes V, Estivill X. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Hum Genet 1997;101:365-70.
    • (1997) Hum Genet , vol.101 , pp. 365-370
    • Casals, T.1    Ramos, M.D.2    Gimenez, J.3    Larriba, S.4    Nunes, V.5    Estivill, X.6
  • 5
    • 0034538033 scopus 로고    scopus 로고
    • DNA technology for the detection of common genetic variants that predispose to thrombophilia
    • Pecheniuk NM, Walsh TP, Marsh NA. DNA technology for the detection of common genetic variants that predispose to thrombophilia. Blood Coagul Fibrinolysis 2000;11:683-700.
    • (2000) Blood Coagul Fibrinolysis , vol.11 , pp. 683-700
    • Pecheniuk, N.M.1    Walsh, T.P.2    Marsh, N.A.3
  • 6
    • 0034565196 scopus 로고    scopus 로고
    • Improving the health of patients with cystic fibrosis through newborn screening: Wisconsin Cystic Fibrosis Neonatal Screening Study Group
    • Farrell PM. Improving the health of patients with cystic fibrosis through newborn screening: Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Adv Pediatr 2000;47:79-115.
    • (2000) Adv Pediatr , vol.47 , pp. 79-115
    • Farrell, P.M.1
  • 8
    • 0034887898 scopus 로고    scopus 로고
    • Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients
    • Merelle ME, Schouten JP, Gerritsen J, Dankert-Roelse JE. Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients. Eur Respir J 2001;18:306-15.
    • (2001) Eur Respir J , vol.18 , pp. 306-315
    • Merelle, M.E.1    Schouten, J.P.2    Gerritsen, J.3    Dankert-Roelse, J.E.4
  • 9
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
    • The Biomed CF Mutation Analysis Consortium
    • Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997;10:135-54.
    • (1997) Hum Mutat , vol.10 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.