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Volumn 50, Issue 2, 2004, Pages 120-122

Rare CFTR mutation 1525-1G>A in a Pakistani patients

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; PANCREAS ENZYME; SALBUTAMOL; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 1842419605     PISSN: 01426338     EISSN: None     Source Type: Journal    
DOI: 10.1093/tropej/50.2.120     Document Type: Article
Times cited : (12)

References (15)
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    • Kambouris, M.1    Banjar, H.2    Mogarri, I.3    Nazer, H.4    Al-Hamed, M.5    Meyer, B.F.6
  • 4
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    • Kambouris M, Jacson CE, Feldman GL. Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid carcinoma [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations. Hum Mutat 1996; 8: 64-70.
    • (1996) Hum. Mutat. , vol.8 , pp. 64-70
    • Kambouris, M.1    Jacson, C.E.2    Feldman, G.L.3
  • 5
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem BS, Rommens JM, Buchman JA, et al. Identification of the cystic fibrosis gene: Genetic analysis. Science 1989; 245: 1073-80.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.S.1    Rommens, J.M.2    Buchman, J.A.3
  • 6
    • 0025134810 scopus 로고
    • Gradient in Europe of the major CF mutation and of its associated haplotype
    • European Working Group of CF genetics
    • European Working Group of CF genetics. Gradient in Europe of the major CF mutation and of its associated haplotype. Hum Genet 1990; 85: 436-45.
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    • The epidemiology of cystic fibrosis
    • Hodson ME, Geddes DM (eds), Chapman and Hall, London
    • Lewis A. The epidemiology of cystic fibrosis. In: Hodson ME, Geddes DM (eds), Cystic Fibrosis. Chapman and Hall, London, 1995; 2-4.
    • (1995) Cystic Fibrosis , pp. 2-4
    • Lewis, A.1
  • 9
    • 0035038773 scopus 로고    scopus 로고
    • Heterogeneity of the cystic fibrosis phenotype in large kindred family in Qatar with cystic fibrosis mutation (11234V)
    • Abdul Wahab A, Dawod ST, Al Thani G, Kambouris M. Al Hamed M. Heterogeneity of the cystic fibrosis phenotype in large kindred family in Qatar with cystic fibrosis mutation (11234V). J Trop Pedatr 2001; 47: 110-12.
    • (2001) J. Trop. Pedatr. , vol.47 , pp. 110-112
    • Abdul Wahab, A.1    Dawod, S.T.2    Al Thani, G.3    Kambouris, M.4    Al Hamed, M.5
  • 10
    • 0033023740 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in cystic fibrosis: Clinical severity of mutations S549R (T>G)
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    • Schwarz, M.J.1    Super, M.2    Wallis, C.3
  • 13
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    • Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis. Y569D, Q98X, 296+12 (T>C), 1161delC and 621+2 (T>C)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.