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|Title:||Novel mutations found in two genes of Thai patients with isolated methylmalonic acidemia|
James R Ketudat Cairns
Chulabhorn Research Institute
Suranaree University of Technology
Phramongkutklao College of Medicine
|Keywords:||Biochemistry, Genetics and Molecular Biology|
|Citation:||Biochemical Genetics. Vol.45, No.5-6 (2007), 421-430|
|Abstract:||Molecular genetic analysis of three patients diagnosed with isolated methylmalonic acidemia (MMA) revealed that one was mut0MMA, 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 the deoxyadenosylcobalamin cofactor of MCM. The mut0patient was homozygous for a novel nonsense mutation in MUT, p.R31X (c.167C → T), and heterozygous for three previously described polymorphisms, p.K212K (c.712A → G), p.H532R (c.1671A → G), and p.V671I (c.2087G → A). The new MMAB mutation, p.E152X (c.454G → T), was found to be homozygous in one cblB patient and heterozygous in the other patient, who also had four intron polymorphisms in this gene. © 2007 Springer Science+Business Media, LLC.|
|Appears in Collections:||Scopus 2006-2010|
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