مشروع البحث: Detection of e280k mutation and lts assoclatlon wlth the vntr in pah gene in pku libyan families
تحميل...
المساهمين
الممولين
رقم التعريف
5708
الباحث
نفيسة عبدالله بخيث
الوصف
Inborn Errors of Metabolism (IEMs) comprise a group of disorders in which a single gene defect causes a clinically significant block in a metabolic pathway resulting either in accumulation of substrate behind the block or deficiency of the product. All IEMs are genetically transmitted typically in an autosomal recessive or X-linked recessive fashion. IEMs are now often referred to as congenital metabolic diseases or inherited metabolic diseases (Oh, et al. 2004).
One of the major categories of inherited metabolic diseases is disorder of amino acid metabolism, phenylketoneuria is one example of this disorder.
الكلمات الدالة
Detection of e280k mutation and lts assoclatlon wlth