Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833677 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠Microarray based mutation screening was performed. ⺠30 Turkish patients diagnosed with mut MMA were included in the study. ⺠22 different mutations, 10 of which are novel, were detected. ⺠The most common p.P615T mutation was identified in 28% of patients. ⺠Microarray sequencing is a useful tool for mutation screening in MUT gene.
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Authors
Halil Dündar, Rıza Köksal Ãzgül, AyÅegül Güzel-Ozantürk, Ali Dursun, Serap Sivri, Didem AliefendioÄlu, Turgay CoÅkun, AyÅegül Tokatlı,