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Volumn 33, Issue 9, 1996, Pages 802-804

First report of CFTR mutations in black cystic fibrosis patients of southern African origin

Author keywords

African blacks; CFTR mutations; Cystic fibrosis

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 19244364425     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.802     Document Type: Article
Times cited : (44)

References (12)
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  • 7
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    • Differences in expression of cystic fibrosis in blacks and whites
    • McColley SA, Rosenstein BJ, Cutting GR. Differences in expression of cystic fibrosis in blacks and whites. Am J Dis Child 1991;145:94-7.
    • (1991) Am J Dis Child , vol.145 , pp. 94-97
    • McColley, S.A.1    Rosenstein, B.J.2    Cutting, G.R.3
  • 8
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    • Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance trans-membrane regulator (CFTR) coding regions and splice site junctions
    • Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance trans-membrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-6.
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3
  • 9
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    • Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France
    • Claustres M, Laussel M, Desgeorges M, et al. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. Hum Molec Genet 1993;2:1209-13.
    • (1993) Hum Molec Genet , vol.2 , pp. 1209-1213
    • Claustres, M.1    Laussel, M.2    Desgeorges, M.3
  • 10
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    • A new missense mutation G1249E in exon 20 of the CFTR gene
    • Greil I, Wagner K, Rozenkranz W. A new missense mutation G1249E in exon 20 of the CFTR gene. Hum Hered 1994;44:238.
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  • 11
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    • The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4:167-77.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.