Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

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...

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Bibliographic Details
Main Authors: Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong
Format: Article
Language:English
Published: Nature Publishing Group 2017-08-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-07349-8

Internet

https://doi.org/10.1038/s41598-017-07349-8

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