Capri, Yline

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. [electronic resource] - American journal of human genetics 06 2019 - 1223-1232 p. digital

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

1537-6605

10.1016/j.ajhg.2019.04.013 doi


Adult
Child
Female
Gain of Function Mutation
Genetic Association Studies
Guanosine Triphosphate--metabolism
HEK293 Cells
Humans
Infant
Infant, Newborn
Male
Membrane Proteins--chemistry
Monomeric GTP-Binding Proteins--chemistry
Noonan Syndrome--etiology
Pedigree
Protein Conformation