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Volumn 136 A, Issue 3, 2005, Pages 246-248

Mutation spectrum in jewish cystic fibrosis patients in israel: Implication to carrier screening

Author keywords

CFTR gene; Cystic fibrosis; Founder mutations; Jews; Mutation analysis; Population screening

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 22044440151     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30823     Document Type: Article
Times cited : (37)

References (17)
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  • 2
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    • Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E. 1996. Cystic fibrosis heterozygote screening in the orthodox community of Ashkenazi Jews: The Dor Yesharim approach and heterozygote frequency. Eur J Hum Genet 4:338-341.
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  • 3
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    • Castellani C, Benetazzo MG, Tamanini A, Begnini A, Mastella G, Pigantti P. 2001a. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test. J Med Genet 38:202-205.
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  • 5
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    • Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M. 1992. Screening for cystic fibrosis mutations in southern France: Identification of a frameshift mutation and two missense variations. Hum Mutat 1:310-313.
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    • Claustres, M.1    Gerrard, B.2    Kjellberg, P.3    Desgeorges, M.4    Demaille, J.5    Dean, M.6
  • 6
    • 1642476810 scopus 로고    scopus 로고
    • Consanguinity, intracommunity and intercommunity marriages in a population sample of Israeli Jews
    • Cohen T, Vardi-Saliternik R, Friedlander Y. 2004. Consanguinity, intracommunity and intercommunity marriages in a population sample of Israeli Jews. Ann Hum Biol 31:38-48.
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  • 9
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    • Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF. 2000. Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations. Eur J Pediatr 159:303-309.
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  • 15
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.