Associated Papers
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
Bammens R et al.
Glycobiology, 2015
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.
Yuste-Checa P et al.
Clinical Genetics, 2015
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
Rosnoblet C et al.
Human Molecular Genetics, 2013
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