Article
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Molecular genetics and metabolism - 1 Aug 2016
Chu Jordan, Pupavac Mihaela, Watkins David, Tian Xia, Feng Yanming, Chen Stella, Fenter Remington, Zhang Victor W, Wang Jing, Wong Lee-Jun, Rosenblatt David S
Abstract excerpt
Mutations in the MUT gene, which encodes the mitochondrial enzyme methylmalonyl-CoA mutase, are responsible for the mut form of methylmalonic aciduria (MMA). In this study, a next generation sequencing (NGS) based gene panel was used to analyze 53 patients that had been diagnosed with mut MMA by somatic cell complementation analysis. A total of 54 different mutations in MUT were identified in 48 patients; 16...
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