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,
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations inmut0patients
β Scribed by Hitoshi Mikami; Masahito Ogasawara; Y. Matsubara; Masahiro Kikuchi; Shigeaki Miyabayashi; Shigeo Kure; Kuniaki Narisawa
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 169 KB
- Volume
- 44
- Category
- Article
- ISSN
- 1435-232X
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