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Detection of mutations in PTPN11 gene in patients with noonan syndrome / Maha Mahmoud Ahmed Kobesiy ; Supervised Maged Mohammed A. Barakat , Mona Lotfi Essawi , Manal Fouad Ismail

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Maha Mahmoud Ahmed Kobesiy , 2013Description: 132 P. : charts , facsimiles ; 25cmOther title:
  • لدى مرضى متلازمة نونان PTPN11 تحديد طفرات جين [Added title page title]
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Dissertation note: Thesis (M.Sc.) - Cairo University - Faculty of Pharmacy - Department of Biochemistry Summary: 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
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.08.01.M.Sc.2013.Ma.D (Browse shelf(Opens below)) Not for loan 01010110061047000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.08.01.M.Sc.2013.Ma.D (Browse shelf(Opens below)) 61047.CD Not for loan 01020110061047000

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

Issued also as CD

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