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Article

Novel mutations in a Thai patient with methylmalonic acidemia.

Molecular genetics and metabolism - 1 Aug 2003

Champattanachai Voraratt, Ketudat Cairns James R, Shotelersuk Vorasuk, Keeratichamroen Siriporn, Sawangareetrakul Phannee, Srisomsap Chantragan, Kaewpaluek Verachai, Svasti Jisnuson

Abstract excerpt

A Thai patient with methylmalonic acidemia (MMA) and no methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) activity in leukocytes in the presence of deoxyadenosyl cobalamin (mut(0)) was found to be heterozygous for two novel mutations: 1048delT and 1706_1707delGGinsTA (G544X), inherited from her mother...

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Identifiers

PMID: 12948746
DOI: 10.1016/s1096-7192(03)00106-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12948746-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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