Original paper
Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG
Abstract
Deficiencies in glycosyltransferases, glycosidases or nucleotide‐sugar transporters involved in protein glycosylation lead to congenital disorders of glycosylation ( CDG ), a group of genetic diseases mostly showing multisystem phenotype. Despite recent advances in the biochemical and molecular knowledge of these diseases, no effective therapy exists for most. Efforts are now being directed toward therapies based on identifying new targets,...
Paper Details
Title
Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG
Published Date
May 22, 2014
Journal
Volume
87
Issue
1
Pages
42 - 48
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Notes
History