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العنوان
Screening of insulin (INS) gene in permanent neonatal diabetes during the first year of life /
الناشر
Aisha Omar Mohamed Atef Tolba ,
المؤلف
Aisha Omar Mohamed Atef Tolba
هيئة الاعداد
باحث / Aisha Omar Mohamed Atef Tolba
مشرف / Nadida Abdelhamid Gohar
مشرف / Walaa Ahmed Mohamed Rabie
مشرف / Marwa Farouk Mira
تاريخ النشر
2014
عدد الصفحات
117 P. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الطب (متفرقات)
تاريخ الإجازة
1/1/2014
مكان الإجازة
جامعة القاهرة - كلية الطب - Clinical and Chemical Pathology
الفهرس
Only 14 pages are availabe for public view

from 131

from 131

Abstract

Background: Permanent neonatal diabetes (PND) is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. A correct genetic diagnosis can affect treatment and clinical outcome. Mutations in the insulin gene (INS) itself have been identified as a cause of neonatal diabetes. This study aimed to investigate the genetic variations in the coding region and intronic boundaries of INS gene and their genotype phenotype correlation in a group of Egyptian PNDM infants with onset in the first 12 months of age. Conclusion: Genetic screening for the INS gene did not reveal any evident role in diagnosis of PNDM among the studied group of Egyptian children