Article ID Journal Published Year Pages File Type
10833677 Molecular Genetics and Metabolism 2012 5 Pages PDF
Abstract
► Microarray based mutation screening was performed. ► 30 Turkish patients diagnosed with mut MMA were included in the study. ► 22 different mutations, 10 of which are novel, were detected. ► The most common p.P615T mutation was identified in 28% of patients. ► Microarray sequencing is a useful tool for mutation screening in MUT gene.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Authors
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