Article
Mutation analysis of the MCM gene in Korean patients with MMA.
Molecular genetics and metabolism - 1 Apr 2005
Jung Jo Won, Hwang Il Tae, Park Jun Eun, Lee Eun Ha, Ryu Kyung Hwa, Kim Sung Hwan, Hwang Jin Soon
Abstract excerpt
Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism caused by inadequate function of methylmalonyl-CoA mutase. We studied five Korean patients diagnosed with mut MMA, here, we report five new missense mutations (G94E, R369C, S344Y, N189K, and T230I) and a previously reported mutation (R369H) that, this is the first time this mutation has been identified in Korean individuals. Genetic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.