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Article

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.

European journal of pediatrics - 1 Apr 1998

Kraus J P

Abstract excerpt

Homocysteine is an independent risk factor for arteriosclerotic disease. Deficiency of cystathionine beta-synthase (CBS) is the major cause of inherited homocysteinemia. The CBS gene is 25-30 kbp long and encodes a subunit of 63 kDa. The active form of the enzyme is a homotetramer that contains one heme and one pyridoxal 5'-phosphate per each subunit. It can also bind 1 mol of S-adenosylmethionine per mol of...

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Identifiers

PMID: 9587026
DOI: 10.1007/pl00014304

Genes

CBS

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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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Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.PMID 9587026Read ↗

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