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Volumn 99, Issue 4, 1997, Pages 513-520

Cystic fibrosis mutations and associated haplotypes in Bulgaria - A comparative population genetic study

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

EID: 0031000598     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050398     Document Type: Article
Times cited : (30)

References (43)
  • 8
    • 0027234275 scopus 로고
    • 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, Giansily M, Culard JF, Razakatsara G, Demaille J (1993) 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 Mol Genet 2:1209-1213
    • (1993) Hum Mol Genet , vol.2 , pp. 1209-1213
    • Claustres, M.1    Laussel, M.2    Desgeorges, M.3    Giansily, M.4    Culard, J.F.5    Razakatsara, G.6    Demaille, J.7
  • 11
    • 0026780584 scopus 로고
    • Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CTFR) coding regions and splice site junctions
    • Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CTFR) coding regions and splice site junctions. Genomics 13: 770-776
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, B.6    Plassa, F.7    Goossens, M.8
  • 12
    • 0000461280 scopus 로고
    • Confidence limits on phylogenies: An approach using the bootstrap
    • Felsenstein J (1985) Confidence limits on phylogenies: an approach using the bootstrap. Evolution 35:785-791
    • (1985) Evolution , vol.35 , pp. 785-791
    • Felsenstein, J.1
  • 14
    • 1342295145 scopus 로고
    • Praeger Publishers, New York
    • Gimbutas M (1971) The Slavs. Praeger Publishers, New York
    • (1971) The Slavs
    • Gimbutas, M.1
  • 21
    • 0029164395 scopus 로고
    • Mutation analysis often 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 often 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
  • 22
    • 0028877929 scopus 로고
    • Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles
    • Lucotte G, Hazout S (1995) Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles. Hum Biol 67:562-576
    • (1995) Hum Biol , vol.67 , pp. 562-576
    • Lucotte, G.1    Hazout, S.2
  • 23
    • 0018080152 scopus 로고
    • Synthetic maps of human gene frequencies in Europeans
    • Menozzi P, Piazza A, Cavalli-Sforza LL (1978) Synthetic maps of human gene frequencies in Europeans. Science 201:786-792
    • (1978) Science , vol.201 , pp. 786-792
    • Menozzi, P.1    Piazza, A.2    Cavalli-Sforza, L.L.3
  • 25
    • 1842345397 scopus 로고
    • CA/GT microsatellite alleles within the CFTR gene are not generated by unequal crossing over
    • Morral N, Nunes V, Casals T, Estivill X (1991) CA/GT microsatellite alleles within the CFTR gene are not generated by unequal crossing over. Genomics 10:1-7
    • (1991) Genomics , vol.10 , pp. 1-7
    • Morral, N.1    Nunes, V.2    Casals, T.3    Estivill, X.4
  • 28
    • 0028043995 scopus 로고
    • Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849+10kbC→T provide evidence of mutation recurrence in the CFTR gene
    • Morral N, Llevadot R, Casals T, Gasparini P, Macek M Jr, Dörk T, Estivill X (1994b) Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849+10kbC→T provide evidence of mutation recurrence in the CFTR gene. Am J Hum Genet 55:890-898
    • (1994) Am J Hum Genet , vol.55 , pp. 890-898
    • Morral, N.1    Llevadot, R.2    Casals, T.3    Gasparini, P.4    Macek Jr., M.5    Dörk, T.6    Estivill, X.7
  • 30
    • 0027919803 scopus 로고
    • Who are the Europeans?
    • Piazza A (1993) Who are the Europeans? Science 260:1767-1769
    • (1993) Science , vol.260 , pp. 1767-1769
    • Piazza, A.1
  • 31
    • 0021038163 scopus 로고
    • Estimation of the coancestry coefficient: Basis for a short-term genetic distance
    • Reynolds J, Weir BS, Cockerham CC (1983) Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics 105:767-779
    • (1983) Genetics , vol.105 , pp. 767-779
    • Reynolds, J.1    Weir, B.S.2    Cockerham, C.C.3
  • 34
    • 0023375195 scopus 로고
    • The neighbor-joining method: A new method for reconstructing phylogenetic trees
    • Saitou N, Nei M (1987) The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 4: 406-425
    • (1987) Mol Biol Evol , vol.4 , pp. 406-425
    • Saitou, N.1    Nei, M.2
  • 36
    • 0028078782 scopus 로고
    • Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty-seven exon-intron boundaries using DGGE and direct DNA sequencing
    • Savov A, Mercier B, Kalaydjieva L, Férec C (1994) Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty-seven exon-intron boundaries using DGGE and direct DNA sequencing. Hum Mol Genet 3: 57-60
    • (1994) Hum Mol Genet , vol.3 , pp. 57-60
    • Savov, A.1    Mercier, B.2    Kalaydjieva, L.3    Férec, C.4
  • 38
    • 0026244938 scopus 로고
    • Ancient movement patterns determine genetic variances in Europe
    • Sokal RR (1991) Ancient movement patterns determine genetic variances in Europe. Hum Biol 63:589-606
    • (1991) Hum Biol , vol.63 , pp. 589-606
    • Sokal, R.R.1
  • 39
    • 0024308010 scopus 로고
    • Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families
    • Stuhrmann M, Reiss O, Monch E, Kurdoǧlu G (1989) Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families. Clin Genet 36:117-121
    • (1989) Clin Genet , vol.36 , pp. 117-121
    • Stuhrmann, M.1    Reiss, O.2    Monch, E.3    Kurdoǧlu, G.4
  • 40
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • The Cystic Fibrosis Genetic Analysis Consortium (1994) Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177
    • (1994) Hum Mutat , vol.4 , pp. 167-177
  • 43
    • 0026332706 scopus 로고
    • A cluster of highly polymorphic dinucleotide repeats in intron 17b of the CFTR gene
    • Zielenski J, Markiewicz D, Rinisland F, Rommens J, Tsui LC (1991) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the CFTR gene. Am J Hum Genet 49:1256-1262
    • (1991) Am J Hum Genet , vol.49 , pp. 1256-1262
    • Zielenski, J.1    Markiewicz, D.2    Rinisland, F.3    Rommens, J.4    Tsui, L.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.