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

dc.contributor.authorBilir, Birdal
dc.contributor.authorYapici, Zuhal
dc.contributor.authorBATTALOĞLU, ESRA
dc.contributor.authorAydin, Resa
dc.contributor.authorGokcal, Elif
dc.date.accessioned2021-03-06T09:35:01Z
dc.date.available2021-03-06T09:35:01Z
dc.date.issued2019
dc.identifier.citationGokcal E., Bilir B., BATTALOĞLU E., Aydin R., Yapici Z., "Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease", BEZMIALEM SCIENCE, cilt.7, ss.215-220, 2019
dc.identifier.othervv_1032021
dc.identifier.otherav_e639ba45-d906-4f1b-acc6-76a96f398444
dc.identifier.urihttp://hdl.handle.net/20.500.12627/151452
dc.identifier.urihttps://doi.org/10.14235/bas.galenos.2018.2847
dc.description.abstractObjective: Among the hypomyelinating diseases of childhood, Pellizeus Merzhachcr 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 alpha 12 (gap junction alpha-12/gap junction gamma-2) gene mutations. The aim of this study was to evaluate clinical severity and progression in time in patients with PMD and PMLD.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectTIP, GENEL & İÇECEK
dc.titleGenotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
dc.typeMakale
dc.relation.journalBEZMIALEM SCIENCE
dc.contributor.departmentBezmiâlem Vakıf Üniversitesi , ,
dc.identifier.volume7
dc.identifier.issue3
dc.identifier.startpage215
dc.identifier.endpage220
dc.contributor.firstauthorID265664


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