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Volumn 99, Issue 1, 1996, Pages 121-125

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0031060651     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050324     Document Type: Article
Times cited : (43)

References (20)
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    • (1989) The Metabolic Basis of Inherited Disease , pp. 2649-2860
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  • 2
    • 0027325822 scopus 로고
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  • 3
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    • The molecular characterization of 16 novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice sites
    • Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes P, Plassa F, Goossens M (1992) The molecular characterization of 16 novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice sites. Genomics 13:770-776
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    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, P.6    Plassa, F.7    Goossens, M.8
  • 5
    • 0025772498 scopus 로고
    • Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis
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  • 6
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    • Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: Applications to genetic counselling in cystic fibrosis
    • Ghanem N, Fanen P, Martin J, Conteville P, Yahia-Cherif Z, Vidaud M, Goossens M (1992) Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis. Mol Cell Probes 6:27-31
    • (1992) Mol Cell Probes , vol.6 , pp. 27-31
    • Ghanem, N.1    Fanen, P.2    Martin, J.3    Conteville, P.4    Yahia-Cherif, Z.5    Vidaud, M.6    Goossens, M.7
  • 7
    • 0029164395 scopus 로고
    • Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: Characterization of 74.5% of CF alleles including one novel mutation
    • Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C (1995) Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation. Hum Genet 96: 364-366
    • (1995) Hum Genet , vol.96 , pp. 364-366
    • Kanavakis, E.1    Tzetis, M.2    Antoniadi, T.3    Traeger-Synodinos, J.4    Doudounakis, S.5    Adam, G.6    Matsaniotis, N.7    Kattamis, C.8
  • 9
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    • Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations
    • Mercier B, Lissens W, Audrezet MP, Bonduelle M, Liebaers I, Ferec C (1993)Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations. Hum Mutat 2: 16-20
    • (1993) Hum Mutat , vol.2 , pp. 16-20
    • Mercier, B.1    Lissens, W.2    Audrezet, M.P.3    Bonduelle, M.4    Liebaers, I.5    Ferec, C.6
  • 10
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    • A simple salting out procedure for extracting DNA from nucleated cells
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  • 11
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    • Multiplex PCR amplification of three microsatellites within the CFTR gene
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    • Morral, N.1    Estivill, X.2
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  • 17
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    • (1975) Pediatrics , vol.55 , pp. 86
    • Shwachman, H.1    Lebenthal, E.2    Khaw, K.T.3
  • 18
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    • (1994) Hum Mutat , vol.4 , pp. 167-177


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.