کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2051721 1074208 2005 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Are splicing mutations the most frequent cause of hereditary disease?
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم کشاورزی و بیولوژیک دانش گیاه شناسی
پیش نمایش صفحه اول مقاله
Are splicing mutations the most frequent cause of hereditary disease?
چکیده انگلیسی

Disease-causing point mutations are assumed to act predominantly through subsequent individual changes in the amino acid sequence that impair the normal function of proteins. However, point mutations can have a more dramatic effect by altering the splicing pattern of the gene. Here, we describe an approach to estimate the overall importance of splicing mutations. This approach takes into account the complete set of genes known to be involved in disease and suggest that, contrary to current assumptions, many mutations causing disease may actually be affecting the splicing pattern of the genes.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: FEBS Letters - Volume 579, Issue 9, 28 March 2005, Pages 1900–1903
نویسندگان
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