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