Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-07349-8.pdf
Reference32 articles.
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3. Godfrey, C., Foley, A. R., Clement, E. & Muntoni, F. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 21, 278–285, doi: 10.1016/j.gde.2011.02.001 (2011).
4. Endo, T. Glycobiology of alpha-dystroglycan and muscular dystrophy. J Biochem 157, 1–12, doi: 10.1093/jb/mvu066 (2015).
5. Godfrey, C. et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130, 2725–2735, doi: 10.1093/brain/awm212 (2007).
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