Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Labonne, Jonathan D J

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. [electronic resource] - Gene Jan 2016 - 42-7 p. digital

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

1879-0038

10.1016/j.gene.2015.08.032 doi


Coffin-Lowry Syndrome--genetics
Exons
Female
Humans
Male
Mutation, Missense
RNA Splice Sites
RNA Splicing
Ribosomal Protein S6 Kinases, 90-kDa--genetics