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Article

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).

Journal of medical genetics - 1 Jul 2000

Watkins D, Matiaszuk N, Rosenblatt D S

Abstract excerpt

AIM: To investigate genetic heterogeneity within the cblA class of inborn error of cobalamin metabolism. CONTEXT: The cblA disorder is characterised by vitamin B12 (cobalamin) responsive methylmalonic aciduria and deficient synthesis of adenosylcobalamin, required for activity of the mitochondrial enzyme methylmalonyl CoA mutase. The cblA gene has not been identified or cloned. We have previously described a...

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Identifiers

PMID: 10882753
DOI: 10.1136/jmg.37.7.510
PMCID: PMC1734625

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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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