Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega, Ana Isabel

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. [electronic resource] - Journal of inherited metabolic disease Aug 2011 - 929-39 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1573-2665

10.1007/s10545-011-9328-2 doi


Cell Line
Congenital Disorders of Glycosylation--genetics
DNA Mutational Analysis
Enzyme Stability--genetics
Gene Expression Profiling
Gene Expression Regulation, Enzymologic--genetics
Humans
Mutation, Missense--physiology
Phosphotransferases (Phosphomutases)--deficiency
Protein Folding