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Article

Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.

Thrombosis research - 15 May 1999

Giusti B, Camacho-Vanegas O, Attanasio M, Comeglio P, Gori A M, Brunelli T, Prisco D, Gensini G F, Abbate R, Pepe G

Abstract excerpt

Cystathionine beta-synthase (CBS) is an important enzyme for methionine metabolism. A common 844ins68 insertion variant in the CBS gene has been described. This 68-bp duplication of the intron 7-exon 8 boundary within the CBS gene already has been reported to be associated in cis with the T833C mutation. Heterozygosity for CBS deficiency is considered an important cause of hyperhomocysteinemia that strongly...

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PMID: 10336241
DOI: 10.1016/s0049-3848(99)00005-5

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CBS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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