Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG. [electronic resource]
- Journal of medical genetics 02 2018
- 137-142 p. digital
Publication Type: Journal Article
1468-6244
10.1136/jmedgenet-2017-104586 doi
Adaptor Proteins, Vesicular Transport--genetics Congenital Disorders of Glycosylation--etiology Female Genetic Association Studies Humans Male Multiprotein Complexes--chemistry Mutation Phenotype Vesicular Transport Proteins--genetics