BeHeard Award 2018: Diseases of Glycosylation, Arginine Mutagenesis, & Neural Development
Type
Blog Post
...manifestations. PMM2-CDG is the most frequent CDG type characterized by deficient phosphomannomutase (PMM) activity...mutations in the PMM2 gene. Videira’s group recently reviewed and reported that PMM2-CDG patients suffer...processes and biological pathways are altered in PMM2-CDG. These studies are expected to identify new ...