Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.

Haijes, Hanneke A

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