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- W2012509156 abstract "Inherited defects in the gene encoding the methylmalonyl-CoA mutase (MCM) result in the mut forms of methylmalonic aciduria (MMA). Twelve mutations have been identified associated with the mut(-) phenotype. We report two novel mutations (K621N and D156N) in a compound heterozygote mut(-) patient. These two mutations and three previously published ones (H627N, A191E, Y231N) were mapped onto a three-dimensional homology model of the human MCM constructed from the crystal structure of the Propionibacterium shermanii enzyme." @default.
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- W2012509156 date "2001-02-01" @default.
- W2012509156 modified "2023-09-25" @default.
- W2012509156 title "Molecular and Structural Analysis of Two Novel Mutations in a Patient with Mut− Methylmalonyl-CoA Deficiency" @default.
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- W2012509156 doi "https://doi.org/10.1006/mgme.2000.3122" @default.
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