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2012•Molecular Genetics and MetabolismRequires access

Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

Halil Dündar, Rıza Köksal Özgül, Ayşegül Güzel-Ozantürk, Ali Dursun, Serap Sivri, Didem Aliefendioğlu, Turgay Coşkun, Ayşegül Tokatlı

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Key concepts: Methylmalonic acidemia, Methylmalonic acid, Mutase, Methylmalonic aciduria, Exome sequencing, Cobalamin, Biology, Genetics

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Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations — Research Paper | ScholarLens