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Volumn 187, Issue 4, 1999, Pages 323-328

Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0033110385     PISSN: 00408727     EISSN: None     Source Type: Journal    
DOI: 10.1620/tjem.187.323     Document Type: Article
Times cited : (12)

References (6)
  • 1
    • 0026679745 scopus 로고
    • Newborn screening for cystic fibrosis
    • Farrell, P.M. & Mischler, E.H. (1992) Newborn screening for cystic fibrosis. Adv. Pediatrics., 39, 35-70.
    • (1992) Adv. Pediatrics , vol.39 , pp. 35-70
    • Farrell, P.M.1    Mischler, E.H.2
  • 3
    • 0031929488 scopus 로고    scopus 로고
    • Severe cystic fibrosis associated with a delta F508/R347H + D979A compound heterozygous genotype
    • Hojo, S., Fujita, J., Miyawaki, H., Obayashi, Y., Takahara, J. & Bartholomew, D.W. (1998) Severe cystic fibrosis associated with a delta F508/R347H + D979A compound heterozygous genotype. Clin. Genet., 53, 50-53.
    • (1998) Clin. Genet. , vol.53 , pp. 50-53
    • Hojo, S.1    Fujita, J.2    Miyawaki, H.3    Obayashi, Y.4    Takahara, J.5    Bartholomew, D.W.6
  • 4
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (ΔF508)
    • Kerem, E., Corey, M., Kerem, B.S., Rommens, J., Markiewicz, D., Levison, H., Tsui, L.C. & Durie, P. (1990) The relation between genotype and phenotype in cystic fibrosis-analysis of the most common mutation (ΔF508). N. Eng. J. Med., 323, 1517 1522.
    • (1990) N. Eng. J. Med. , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.S.3    Rommens, J.4    Markiewicz, D.5    Levison, H.6    Tsui, L.C.7    Durie, P.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.