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Volumn 6, Issue 2, 1998, Pages 181-184

Screening of CFTR mutations in an isolated population: Identification of carriers and patients

Author keywords

Carrier frequency; CFTR mutations; Disease frequency; Genetic diagnosis; Genetic disease screening; Isolated population

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0031958696     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200174     Document Type: Article
Times cited : (14)

References (14)
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  • 2
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  • 3
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    • Identification of mutations in exon 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
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  • 5
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    • Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia
    • Jarvi K, Zielenski J, Wilschanski M et al: Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet 1995; 345: 1578.
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  • 7
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    • A CFTR splice variant with partial penetrance associated with variable cystic fibrosis presentation
    • Kerem E, Rave-Harel N, Augarten A et al: A CFTR splice variant with partial penetrance associated with variable cystic fibrosis presentation. Am J Respir Crit Care Med 1997; 155: 1914-1920.
    • (1997) Am J Respir Crit Care Med , vol.155 , pp. 1914-1920
    • Kerem, E.1    Rave-Harel, N.2    Augarten, A.3
  • 8
    • 0025760318 scopus 로고
    • Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Zielenski J, Rozmahel R, Bozon D et al: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991; 10: 214-228.
    • (1991) Genomics , vol.10 , pp. 214-228
    • Zielenski, J.1    Rozmahel, R.2    Bozon, D.3
  • 10
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    • A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype
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  • 14
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.