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Neurogenetics of Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutation in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in cen...
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| Publicado no: | Handb Clin Neurol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8167836/ https://ncbi.nlm.nih.gov/pubmed/29478609 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/B978-0-444-64076-5.00045-4 |
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