Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Loveday, Chey

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. [electronic resource] - Human molecular genetics 09 2015 - 4775-9 p. digital

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

1460-2083

10.1093/hmg/ddv182 doi


Exome
Genetic Association Studies
Growth Disorders--genetics
Humans
Membrane Proteins--chemistry
Models, Molecular
Mutation
Phenotype
Protein Conformation
Protein Phosphatase 2--chemistry