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

Medicine & Life Sciences

• Coffin-Lowry Syndrome 100%
• ribosomal protein S6 kinase, 90kDa, polypeptide 3 98%
• Missense Mutation 57%
• Exons 46%
• X Chromosome Inactivation 36%
• Peptides 35%
• Mutation 31%
• Mothers 17%
• Phenotype 16%
• Loss of Function Mutation 15%
• Mutant Proteins 14%
• Intellectual Disability 13%
• Methylation 12%
• Complementary DNA 11%
• Nucleotides 11%
• Tissue Donors 10%
• Adenosine Triphosphate 10%
• Western Blotting 9%
• Polymerase Chain Reaction 8%
• Genes 5%
• Proteins 5%