Article
Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.
Molecular genetics and metabolism - 1 Feb 2001
Benoist J F, Acquaviva C, Callebaut I, Guffon N, Ogier de Baulny H, Mornon J P, Porquet D, Elion J
Abstract excerpt
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...
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