کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8314176 1538684 2012 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications
چکیده انگلیسی
► This study establishes biochemical and mutation database for GALT gene in India. ► A negative correlation observed between GALT activity and gal-1-phosphate levels. ► 10 novel mutations were identified in GALT gene. ► N314D was the most common genetic change observed in our population. ► Mutations exerted their effects on H-bonds, salt bridges and secondary structures.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 414, 24 December 2012, Pages 191-196
نویسندگان
, , , ,