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Article

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Human mutation - 1 Mar 2007

Vyletal Petr, Sokolová Jitka, Cooper David N, Kraus Jan P, Krawczak Michael, Pepe Guglielmina, Rickards Olga, Koch Hans G, Linnebank Michael, Kluijtmans Leo A J, Blom Henk J, Boers Godfried H J, Gaustadnes Mette, Skovby Flemming, Wilcken Bridget, Wilcken David E L, Andria Generoso, Sebastio Gianfranco, Naughten Eileen R, Yap Sufin, Ohura Toshihiro, Pronicka Ewa, Laszlo Aranka, Kozich Viktor

Abstract excerpt

Homozygosity or compound heterozygosity for the c.833T>C transition (p.I278 T) in the cystathionine beta-synthase (CBS) gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians. However, the frequency of the pathogenic c.833C allele, as observed in health...

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Identifiers

PMID: 17072863
DOI: 10.1002/humu.20430
PMCID: PMC2630376

Genes

CBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17072863-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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