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Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene
Dystroglycan (DG) is a major cell membrane glycoprotein, which is encoded by the DAG1 gene. α-DG is one of DG subunits, belongs to O-mannosylated protein of mammals and was identified in brain, peripheral nerves and muscle. Dystroglycanopathies are a group of heterogeneous congenital muscular dystro...
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| 發表在: | Intractable Rare Dis Res |
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| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7263986/ https://ncbi.nlm.nih.gov/pubmed/32494558 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03013 |
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