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Article

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

American journal of human genetics - 1 Aug 1998

Wilson A, Leclerc D, Saberi F, Campeau E, Hwang H Y, Shane B, Phillips J A, Rosenblatt D S, Gravel R A

Abstract excerpt

Methionine synthase (MS) catalyses the methylation of homocysteine to methionine and requires the vitamin B12 derivative, methylcobalamin, as cofactor. We and others have recently cloned cDNAs for MS and described mutations associated with the cblG complementation group that correspond to MS deficiency. A subset of cblG, known as "cblG variant," shows no detectable MS activity and failure of [57Co]CN cobalamin to...

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Identifiers

PMID: 9683607
DOI: 10.1086/301976
PMCID: PMC1377317

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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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