کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10833677 1065807 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations
چکیده انگلیسی
► 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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 106, Issue 4, August 2012, Pages 419-423
نویسندگان
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