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...

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Vydáno v:Sci Rep
Hlavní autoři: Fu, Xiaona, Yang, Haipo, Jiao, Hui, Wang, Shuo, Liu, Aijie, Li, Xiaoqing, Xiao, Jiangxi, Yang, Yanling, Wu, Xiru, Xiong, Hui
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup: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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