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The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

Human mutation - 1 Oct 2004

Linnebank Michael, Janosik Miroslav, Kozich Viktor, Pronicka Ewa, Kubalska Jolanta, Sokolova Jitka, Linnebank Anja, Schmidt Eva, Leyendecker Christina, Klockgether Thomas, Kraus Jan Peter, Koch Hans Georg

Abstract excerpt

In homocystinuria due to cystathionine beta-synthase (CBS) deficiency, vitamin B6 response has been linked to distinct mutations and ruled out for others. The splice site mutation c.1224-2A>C leading to the deletion of exon 12 is predominantly found in patients from Central Europe, where it has been found on in average 14% of mutant alleles. In this study we analyzed the clinical picture in 17 CBS deficient...

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PMID: 15365998
DOI: 10.1002/humu.9280

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CBS

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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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