The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis.

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Article

The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis.

Haematologica - 1 Nov 1998

Franco R, Maffei F, Lourenço D, Piccinato C, Morelli V, Thomazini I, Zago M

Abstract excerpt

BACKGROUND AND OBJECTIVES: A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this mutation as a candidate risk factor for venous thrombosis. DESIGN AND METHOD...

Topics

Adolescent
Adult
Alleles
Amino Acid Substitution
Brazil
Child
Child, Preschool
Codon
Cystathionine beta-Synthase
DNA Mutational Analysis
Exons
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Infant
Male
Middle Aged

Source

Open in PubMed

Identifiers

PMID: 9864922

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9864922-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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