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Milder forms of muscular dystrophy associated with POMGNT2 mutations
OBJECTIVE: To determine the genetic variants in patients with dystroglycanopathy (DGP) and assess the pathogenicity of these variants. METHODS: A total of 20 patients with DGP were identified by immunohistochemistry or Western blot analysis. Whole-exome sequencing (WES) was performed using patient s...
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| 出版年: | Neurol Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4811383/ https://ncbi.nlm.nih.gov/pubmed/27066570 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000033 |
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