Detection of mutations in PTPN11 gene in patients with noonan syndrome /
Maha Mahmoud Ahmed Kobesiy
Detection of mutations in PTPN11 gene in patients with noonan syndrome / لدى مرضى متلازمة نونان PTPN11 تحديد طفرات جين Maha Mahmoud Ahmed Kobesiy ; Supervised Maged Mohammed A. Barakat , Mona Lotfi Essawi , Manal Fouad Ismail - Cairo : Maha Mahmoud Ahmed Kobesiy , 2013 - 132 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry
Background : Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature and cardiac defects which can be caused by missense PTPN11 mutations . Protein tyrosine phosphatase non receptor 11 (PTPN11) encodes src homology 2 domain containing tyrosine phosphatase-2 (SHP-2), a protein tyrosine phosphatase that acts in signal transduction downstream to growth factors and cytokines
Mutational analysis Noonan syndrome Protein tyrosine phosphatase
Detection of mutations in PTPN11 gene in patients with noonan syndrome / لدى مرضى متلازمة نونان PTPN11 تحديد طفرات جين Maha Mahmoud Ahmed Kobesiy ; Supervised Maged Mohammed A. Barakat , Mona Lotfi Essawi , Manal Fouad Ismail - Cairo : Maha Mahmoud Ahmed Kobesiy , 2013 - 132 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry
Background : Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature and cardiac defects which can be caused by missense PTPN11 mutations . Protein tyrosine phosphatase non receptor 11 (PTPN11) encodes src homology 2 domain containing tyrosine phosphatase-2 (SHP-2), a protein tyrosine phosphatase that acts in signal transduction downstream to growth factors and cytokines
Mutational analysis Noonan syndrome Protein tyrosine phosphatase