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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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| Vydáno v: | Handb Clin Neurol |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2018
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| Témata: | |
| On-line přístup: | 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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