کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5589990 1570076 2017 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Significance of intronic and synonymous MYBPC3 gene variations in hypertrophic cardiomyopathy
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Significance of intronic and synonymous MYBPC3 gene variations in hypertrophic cardiomyopathy
چکیده انگلیسی
The synonymous and intronic variations though are non-pathogenic, may still have a regulatory role in the splicing mechanism, resulting in stoichiometry changes mandatory in protein-protein interactions. Their effect may be further influenced by the modifier genes and environmental factors accounting for severe clinical manifestations and phenotypic heterogeneity. Hence, the present study describes the significance of intronic and synonymous variations of MYBPC3 gene in the phenotype.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene Reports - Volume 8, September 2017, Pages 94-99
نویسندگان
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