Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease

Objective:Among the hypomyelinating diseases of childhood, Pelizaeus Merzbacher disease (PMD) is caused by X-linked proteolipid protein (PLP) gene mutations, whereas patients without mutations of PLP gene-called Pelizaues Merzbacher-like disease (PMLD) have recessive gap junction protein α12 (gap ju...

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Bibliographic Details
Main Authors: Elif GÖKÇAL, Birdal BİLİR, Esra BATTALOĞLU, Resa AYDIN, Zuhal YAPICI
Format: Article
Language:English
Published: Galenos Publishing House 2019-07-01
Series:Bezmiâlem Science
Subjects:
Online Access: http://bezmialemscience.org/archives/archive-detail/article-preview/genotype-phenotype-correlation-in-pelizaeus-merzba/20565