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 ...