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Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders
Alterations in the myelin proteolipid protein gene (PLP1) may result in rare X-linked disorders in humans such as Pelizaeus–Merzbacher disease and spastic paraplegia type 2. PLP1 expression must be tightly regulated since null mutations, as well as elevated PLP1 copy number, both lead to disease. Pr...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5528184/ https://www.ncbi.nlm.nih.gov/pubmed/28735559 http://dx.doi.org/10.1177/1759091417720583 |