Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes

Pelizaeus-Merzbacher disease (PMD) is a pediatric disease of myelin in the central nervous system and manifests with a wide spectrum of clinical severities. Although PMD is a rare monogenic disease, hundreds of mutations in the X-linked myelin gene proteolipid protein 1 (PLP1) have been identified i...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Nevin, Zachary S., Factor, Daniel C., Karl, Robert T., Douvaras, Panagiotis, Laukka, Jeremy, Windrem, Martha S., Goldman, Steven A., Fossati, Valentina, Hobson, Grace M., Tesar, Paul J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5384098/
https://ncbi.nlm.nih.gov/pubmed/28366443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.03.005
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