A Case of Glutaric Aciduria Type I with a Novel Mutation

Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutations have been described for this gene. Most common...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:Çukurova Üniversitesi Tıp Fakültesi Dergisi
المؤلفون الرئيسيون: Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan
التنسيق: مقال
اللغة:الإنجليزية
منشور في: Cukurova University 2013-08-01
الموضوعات:
Glutaric aciduria type 1
Glutaril CoA dehydrogenase
الوصول للمادة أونلاين:http://www.scopemed.org/fulltextpdf.php?mno=35608

الانترنت

http://www.scopemed.org/fulltextpdf.php?mno=35608

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