Article
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.
Genetics and molecular research : GMR - 8 Oct 2014
Kong X D, Shi H R, Liu N, Wu Q H, Xu X J, Zhao Z H, Lu N, Li-Ling J, Luo D
Abstract excerpt
Isolated methylmalonic acidemia (MMA) is a genetically heterogeneous disorder caused mainly by deficiency of methylmalonyl-CoA mutase. In the present study, we analyzed MUT gene mutations in 3 Chinese couples with a birth history of isolated MMA. We also provided prenatal diagnoses for the detected mutation. Exons and exon-intron boundaries of the MUT gene were analyzed by polymerase chain reaction and direct...
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