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Different proteolipid protein mutants exhibit unique metabolic defects
PMD (Pelizaeus–Merzbacher disease), a CNS (central nervous system) disease characterized by shortened lifespan and severe neural dysfunction, is caused by mutations of the PLP1 (X-linked myelin proteolipid protein) gene. The majority of human PLP1 mutations are caused by duplications; almost all oth...
Autores principales: | Hüttemann, Maik, Zhang, Zhan, Mullins, Chadwick, Bessert, Denise, Lee, Icksoo, Nave, Klaus-Armin, Appikatla, Sunita, Skoff, Robert P |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
American Society for Neurochemistry
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810813/ https://www.ncbi.nlm.nih.gov/pubmed/19663806 http://dx.doi.org/10.1042/AN20090028 |
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