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Article

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

American journal of human genetics - 1 Jun 2001

Janosík M, Oliveriusová J, Janosíková B, Sokolová J, Kraus E, Kraus J P, Kozich V

Abstract excerpt

During the past 20 years, cystathionine beta-synthase (CBS) deficiency has been detected in the former Czechoslovakia with a calculated frequency of 1:349,000. The clinical manifestation was typical of homocystinuria, and about half of the 21 patients were not responsive to pyridoxine. Twelve distinct mutations were detected in 30 independent homocystinuric alleles. One half of the alleles carried either the...

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Identifiers

PMID: 11359213
DOI: 10.1086/320597
PMCID: PMC1226138

Genes

CBS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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