Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing
Abstract 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 feat...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2017
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/bdc70500ec3244ecb6dfec4e93dc5765 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|