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Molecular genetics and metabolism, v.72 no.2, 2001년, pp.181 - 184
Benoist, J.F. , Acquaviva, C. , Callebaut, I. , Guffon, N. , Ogier de Baulny, H. , Mornon, J.P. , Porquet, D. , Elion, J.
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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 ...
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