Journal of Turkish Clinical Biochemistry

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Found 3 items.

SCN1A, SCN2A, KCNQ2 Gene Mutations in Epilepsy With Generalized Tonic-Clonic Seizures

Zeynep Aytaç, Berrin Tuğrul, Burak Batır, Ece Onur, Hikmet Yılmaz

Ojective: In this study, we aimed to investigate if there is a relationship between mutations in SCN1A (R1648H), SCN2A (GAL879-881QQQ), KCNQ2 (V182M) genes and epilepsy with generalized tonic-clonic seizure (GTCS).

Materials and Methods: Seventy five...

Journal of Turkish Clinical Biochemistry • 2016-08-01

The Association of Preeclampsia with Angiotensin-Converting Enzyme I/D Gene Polymorphism and Hyperhomocysteinemia

Elif İşbilen, Yeşim Ünlüçerçi, Figen Gürdöl, Hülya Yılmaz, Turgay İsbir, Yavuz Ceylan, Recep Has
Hyperhomocysteinemia and increased ACE activity due to the deletion polymorphism of the ACE gene are two common features in a wide variety of pathological conditions that exhibit endothelial disturbances. In this study, we examined both the I/D genotype distribution and the activity of ACE in...
Journal of Turkish Clinical Biochemistry • 2003-04-01

Mutation Scanning Methods

H. Asuman Özkara
Scanning methods for mutation detection are important especially for research and diagnosis of inherited metabolic diseases and cancer. Many techniques were described for detection of unknown mutations. In the present review, current methods such as Ribonuclease cleavage, Denaturing Gradient Gel...
Journal of Turkish Clinical Biochemistry • 2003-04-01
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