Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia
Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia
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United States: New York : Kluwer Academic Publishers-Plenum Publishers
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Language
English
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Publisher
United States: New York : Kluwer Academic Publishers-Plenum Publishers
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Contents
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 the deoxyadenosylcobalamin cofactor of MCM. The mut ⁰ patie...
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Full title
Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia
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TN_cdi_proquest_miscellaneous_70618719
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70618719
Other Identifiers
ISSN
0006-2928
E-ISSN
1573-4927
DOI
10.1007/s10528-007-9085-y
