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GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation
Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan. In this series, we report nine unrelated individuals with GMPPB-associ...
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| 出版年: | Hum Mutat |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4843780/ https://ncbi.nlm.nih.gov/pubmed/26310427 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22898 |
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