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Article

Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.

Biochemical genetics - 1 Jun 2007

Keeratichamroen Siriporn, Cairns James R Ketudat, Sawangareetrakul Phannee, Liammongkolkul Somporn, Champattanachai Voraratt, Srisomsap Chantragan, Kamolsilp Mahattana, Wasant Pornswan, Svasti Jisnuson

Abstract excerpt

Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut (0) MMA, with a mutation in the MUT gene encoding the L: -methylmalonyl-CoA mutase (MCM), and two were cblB MMA, with mutations in the MMAB gene required for synthesizing th...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17410422
DOI: 10.1007/s10528-007-9085-y

Genes

MMAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17410422-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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