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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Autores principales: Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/bdc70500ec3244ecb6dfec4e93dc5765
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