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Treatment of a methylmalonyl-CoA mutase stopcodon mutation

✍ Scribed by Nicole E. Buck; Leonie R. Wood; Natasha J. Hamilton; Michael J. Bennett; Heidi L. Peters

Book ID: 119194664
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 314 KB
Volume: 427
Category: Article
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2012.09.133

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We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective,