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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 : (68)

References (15)
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    • 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
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    • 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.
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  • 13
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.