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Article

Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.

Molecular and cellular biochemistry - 1 Dec 2009

Chassé Jean-François, Barouki Robert

Abstract excerpt

Cystathionine beta synthase (CBS) is the only reaction that removes homocysteine from methionine cycle and redirects it to the transsulfuration pathway. The c.[833T>C;844_845ins68] mutation in the CBS gene has been reported initially as corresponding to classic homocystinuria. Studies showing that the insertion is associated with very smalls amounts of the transcript in the nucleus; others suggest that the...

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PMID: 19593657
DOI: 10.1007/s11010-009-0189-z

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CBS

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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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