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Article

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Molecular genetics and metabolism - 1 Jan 2010

Skovby Flemming, Gaustadnes Mette, Mudd S Harvey

Abstract excerpt

We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular...

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Identifiers

PMID: 19819175
DOI: 10.1016/j.ymgme.2009.09.009
PMCID: PMC2795104

Genes

CBS

Variants

Provenance

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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A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.PMID 19819175Read ↗

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