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Article

Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine beta-synthase gene.

Clinica chimica acta; international journal of clinical chemistry - 1 Apr 2005

Griffioen Pieter H, de Jonge Robert, van Zelst Bertrand D, Montserrate Brouns R, Lindemans Jan

Abstract excerpt

BACKGROUND: The most common 833T>C/844ins68 in cis double mutation in the cystathionine beta synthase (CBS) gene probably is non-pathogenic because the 68-bp insertion eliminates the 833T>C mutation due to alternative splicing. However, allele frequency and effects of the isolated 833T>C mutation...

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Source

Identifiers

PMID: 15748616
DOI: 10.1016/j.cccn.2004.11.019

Genes

CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15748616-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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