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Article

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

Molecular genetics and metabolism - 1 Jan 2000

Illson Margaret L, Dempsey-Nunez Laura, Kent Jana, Huang Qiuying, Brebner Alison, Raff Michael L, Watkins David, Gilfix Brian M, Wittwer Carl T, Rosenblatt David S

Abstract excerpt

Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B12 (cobalamin) into its active coenzyme adenosylcobalamin (AdoCbl). Mutations in the MMAB gene affect the function of the enzyme ATP:cob(I)alamin adenosyltransferase (ATR) and the production of AdoCbl. Measurement of MCM function in cultured...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23707710
DOI: 10.1016/j.ymgme.2013.04.020

Genes

MMAB
ATR

Variants

Provenance

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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