TY  - BOOK
AU  - Aisha Omar Mohamed Atef Tolba
AU  - Marwa Farouk Mira , 
AU  - Nadida Abdelhamid Gohar , 
AU  - Walaa Ahmed Mohamed Rabie , 
TI  - Screening of insulin (INS) gene in permanent neonatal diabetes during the first year of life / 
PY  - 2014///
CY  - Cairo : 
PB  - Aisha Omar Mohamed Atef Tolba , 
KW  - DNA sequencing
KW  - INS
KW  - Permanent neonatal diabetes  (PND)
N1  - Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology; Issued also as CD
N2  - 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
UR  - http://172.23.153.220/th.pdf
ER  -