Browsing by Subject "Gap junctions (Cell biology)"

Now showing items 1-2 of 2

Genetic and molecular analyses of Turkish patients with pelizaeus - merzbacher disease

Bilir, Birdal. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2007., 2007.)

Pelizaeus-Merzbacher disease (PMD) is a rare inherited leukodystrophy with Xlinked recessive segregation. About 80 per cent of patients with PMD have been associated with mutations of the PLP1 gene on Xq21.3-Xq22 which ...
GJB1 mutation screening and in vitro investigation of its upstream mutations

Arı, Oğuz. (Thesis (M.A.) - Bogazici University. Institute for Graduate Studies in the Social Sciences, 2017., 2017.)

Charcot-Marie-Tooth Type 1X (CMTX1) is the X chromosome linked form of the disease and caused by mutations in the gap junction protein 1 (GJB1) gene. This gene is the second most commonly mutated gene in all CMT forms after ...

Search Digital Archive