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Article

The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

Human mutation - 1 Feb 2004

Moat Stuart J, Bao Liming, Fowler Brian, Bonham James R, Walter John H, Kraus Jan P

Abstract excerpt

The molecular basis of cystathionine beta-synthase (CBS) deficiency has been studied in 536 patient alleles with 130 different mutations described. To date, no study has reported on the incidence of any of the reported mutations in patients from the UK and the US. We developed a new antisense oli...

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Source

Identifiers

PMID: 14722927
DOI: 10.1002/humu.9214

Genes

CBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14722927-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.PMID 14722927Read ↗

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