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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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| 出版年: | ASN Neuro |
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| 第一著者: | |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
SAGE Publications
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5528184/ https://ncbi.nlm.nih.gov/pubmed/28735559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1759091417720583 |
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