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Volumn 354, Issue 1-2, 2005, Pages 191-194

Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine β-synthase gene

Author keywords

833T>C; 844ins68; Cardiovascular disease; Cystathionine synthase; Homocysteine

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; DNA FRAGMENT; HOMOCYSTEINE; PRIMER DNA;

EID: 14644430908     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2004.11.019     Document Type: Article
Times cited : (15)

References (7)
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  • 2
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    • The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms
    • J.P. Kraus, J. Oliveriusova, J. Sokolova, E. Kraus, C. Vlcek, and R. de Franchis The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms Genomics 52 1998 312 324
    • (1998) Genomics , vol.52 , pp. 312-324
    • Kraus, J.P.1    Oliveriusova, J.2    Sokolova, J.3    Kraus, E.4    Vlcek, C.5    De Franchis, R.6
  • 3
    • 0029829735 scopus 로고    scopus 로고
    • High prevalence of a mutation in the cystathionine beta-synthase gene
    • M.Y. Tsai, M. Bignell, K. Schwichtenberg, and N.Q. Hanson High prevalence of a mutation in the cystathionine beta-synthase gene Am. J. Hum. Genet. 59 1996 1262 1267
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 1262-1267
    • Tsai, M.Y.1    Bignell, M.2    Schwichtenberg, K.3    Hanson, N.Q.4
  • 4
    • 0029068922 scopus 로고
    • The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations
    • G. Sebastio, M.P. Sperandeo, M. Panico, R. de Franchis, J.P. Kraus, and G. Andria The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations Am. J. Hum. Genet. 56 1995 1324 1333
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 1324-1333
    • Sebastio, G.1    Sperandeo, M.P.2    Panico, M.3    De Franchis, R.4    Kraus, J.P.5    Andria, G.6
  • 5
    • 0034971293 scopus 로고    scopus 로고
    • High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application
    • M. Linnebank, A. Homberger, R. Junker, U. Nowak-Goettl, E. Harms, and M.G. Koch High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application Thromb. Haemost. 58 2001 986 988
    • (2001) Thromb. Haemost. , vol.58 , pp. 986-988
    • Linnebank, M.1    Homberger, A.2    Junker, R.3    Nowak-Goettl, U.4    Harms, E.5    Koch, M.G.6
  • 6
  • 7
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    • Polygenic influence on plasma homocysteine: Association of two prevalent mutations, the 844ins68 of cystathionine beta-synthase and A(2756)G of methionine synthase, with lowered plasma homocysteine levels
    • M.Y. Tsai, M. Bignell, F. Yang, B.G. Welge, K.J. Graham, and N.Q. Hanson Polygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionine beta-synthase and A(2756)G of methionine synthase, with lowered plasma homocysteine levels Atherosclerosis 149 2000 131 137
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    • Tsai, M.Y.1    Bignell, M.2    Yang, F.3    Welge, B.G.4    Graham, K.J.5    Hanson, N.Q.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.