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Article

World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker.

Human genetics - 1 Feb 1999

Pepe G, Vanegas O C, Rickards O, Giusti B, Comeglio P, Brunelli T, Marcucci R, Prisco D, Gensini G F, Abbate R

Abstract excerpt

Mild hyperhomocysteinemia is associated to mutations either in cystathionine beta-synthase (CBS) or in 5,10-methylenetetrahydrofolate reductase (MTHFR) genes. In 1995, Sebastio et al. characterized a 68 bp insertion in cis with the most common CBS mutation (T833C) detected in homocystinuric patients. Recently, this double mutation has been detected in Italian and North-American controls. Compared to a group of...

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Identifiers

PMID: 10190322
DOI: 10.1007/s004390050924

Genes

CBS
MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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