کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2825139 1161912 2009 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The genetic landscape of intellectual disability arising from chromosome X
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
The genetic landscape of intellectual disability arising from chromosome X
چکیده انگلیسی

X-linked mental retardation (XLMR) or intellectual disability (ID) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. It affects between 1/600–1/1000 males and a substantial number of females. Research during the past decade has identified >90 different XLMR genes, affecting a wide range of cellular processes. Many more genes remain uncharacterized, especially for the non-syndromic XLMR forms. Currently, ∼11% of X-chromosome genes are implicated in XLMR; however, apart from a few notable exceptions, most contribute individually to <0.1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 25, Issue 7, July 2009, Pages 308–316
نویسندگان
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