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Volumn 62, Issue 1, 1997, Pages 23-25

A common 844INS68 insertion variant in the cystathionine β-synthase gene

Author keywords

Alternative splicing; Cystathionine synthase; Genetic marker; Homocysteine; Insertion variant; Vascular disease

Indexed keywords

CYSTATHIONINE; ENZYME VARIANT; SYNTHETASE;

EID: 0031259275     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1997.2623     Document Type: Article
Times cited : (67)

References (15)
  • 1
    • 0029066299 scopus 로고
    • A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: Probable benefits of increasing folic acid intakes
    • 1. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: Probable benefits of increasing folic acid intakes. J Am Med Assoc 274:1049-1057, 1995.
    • (1995) J Am Med Assoc , vol.274 , pp. 1049-1057
    • Boushey, C.J.1    Beresford, S.A.A.2    Omenn, G.S.3    Motulsky, A.G.4
  • 4
    • 0028001103 scopus 로고
    • Molecular basis of phenotype expression in homocystinuria
    • 4. Kraus JP. Molecular basis of phenotype expression in homocystinuria. J Inher Metab Dis 17:383-390, 1994.
    • (1994) J Inher Metab Dis , vol.17 , pp. 383-390
    • Kraus, J.P.1
  • 7
    • 0029068922 scopus 로고
    • The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families and report of four novel mutations
    • 7. Sebastio G, Sperandeo MP, Panico M, De Franchis R, Kraus JP, Andria G. The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families and report of four novel mutations. Am J Hum Genet 56:1324-1333, 1995.
    • (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
  • 8
    • 0029072356 scopus 로고
    • Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: Report of a new mutation in exon 8 and a deletion in intron 11
    • 8. Sperandeo MP, Panico M, Pepe A, Candito M, De Franchis R, Kraus JP, Andria G, Sebastio G. Molecular analysis of patients affected by homocystinuria due to cystathionine β-synthase deficiency: Report of a new mutation in exon 8 and a deletion in intron 11. J Inher Metab Dis 18:211, 1995.
    • (1995) J Inher Metab Dis , vol.18 , pp. 211
    • Sperandeo, M.P.1    Panico, M.2    Pepe, A.3    Candito, M.4    De Franchis, R.5    Kraus, J.P.6    Andria, G.7    Sebastio, G.8
  • 12
    • 0029852838 scopus 로고    scopus 로고
    • A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA
    • 12. Sperandeo MP, De Franchis R, Andria G, Sebastio G. A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA. Am J Hum Genet 59:1391-1393, 1996.
    • (1996) Am J Hum Genet , vol.59 , pp. 1391-1393
    • Sperandeo, M.P.1    De Franchis, R.2    Andria, G.3    Sebastio, G.4
  • 13
    • 0029829735 scopus 로고    scopus 로고
    • High prevalence of a mutation in the cystathionine β-synthase gene
    • 13. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. High prevalence of a mutation in the cystathionine β-synthase gene. Am J Hum Genet 59:1262-1267, 1996.
    • (1996) Am J Hum Genet , vol.59 , pp. 1262-1267
    • Tsai, M.Y.1    Bignell, M.2    Schwichtenberg, K.3    Hanson, N.Q.4
  • 15
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • 15. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.