کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10833473 1065795 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria
چکیده انگلیسی
► High resolution melting analysis (HRMA) represents a fast and efficient means to screen DNA for potential sequence changes that can then be identified by sequencing. ► HRMA correctly identified all previously reported mutations in the MMAA gene in a panel of 37 previously sequenced cblA patients. ► It identified 64 MMAA variants in 35 previously unsequenced cblA patients, including 10 novel variants. ► A single patient with a heterozygous MMAA variant was identified in a panel of 191 patients with methylmalonic aciduria of unknown cause.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 107, Issue 3, November 2012, Pages 363-367
نویسندگان
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