Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-gen...
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing
About this item
Full title
Author / Creator
Fu, Xiaona , Yang, Haipo , Jiao, Hui , Wang, Shuo , Liu, Aijie , Li, Xiaoqing , Xiao, Jiangxi , Yang, Yanling , Wu, Xiru and Xiong, Hui
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 three MEB patients with
POMGNT1
mutations. On...
Alternative Titles
Full title
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_bdc70500ec3244ecb6dfec4e93dc5765
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bdc70500ec3244ecb6dfec4e93dc5765
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-07349-8
