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Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
- Marcela Moncada-Vélez, Ruben Martinez-Barricarte, +22 authors S. Boisson-Dupuis
- Biology, Medicine
- 3 October 2013
We report a molecular study of the two known patients with autosomal recessive, partial interferon-γ receptor (IFN-γR)2 deficiency (homozygous for mutations R114C and G227R), and three novel,… Expand