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Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing
The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis of α-dystroglycanopathies(α-DGPs) such as muscle–eye–brain disease (MEB). Our study aimed to retrospectively analyze and characterize the clinical and genetic features of t...
Shranjeno v:
| izdano v: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group UK
2017
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5539251/ https://ncbi.nlm.nih.gov/pubmed/28765568 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-07349-8 |
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