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Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

Human mutation - 1 Jul 2009

Lerner-Ellis Jordan P, Anastasio Natascia, Liu Junhui, Coelho David, Suormala Terttu, Stucki Martin, Loewy Amanda D, Gurd Scott, Grundberg Elin, Morel Chantal F, Watkins David, Baumgartner Matthias R, Pastinen Tomi, Rosenblatt David S, Fowler Brian

Abstract excerpt

Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B(12) (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals. Eleven novel mutations were identified, as well as 23 mutations that were observed previously. Six sequence variants capture haplotype diversity in individuals across the MMACHC...

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Identifiers

PMID: 19370762
DOI: 10.1002/humu.21001

Genes

MMACHC

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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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