Martínez-Garay, I <br/><br/>
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.  [electronic resource] 

 -  Clinical genetics  Dec 2003 
 - 491-6 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0009-9163 
<br/><br/><label>Standard No.: </label>10.1046/j.1399-0004.2003.00166.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Blotting, Southern<br/>Child<br/>Codon, Nonsense--genetics<br/>Coffin-Lowry Syndrome--genetics<br/>DNA Mutational Analysis<br/>DNA Primers<br/>Gene Components<br/>Humans<br/>Long Interspersed Nucleotide Elements--genetics<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Polymorphism, Single-Stranded Conformational<br/>Reverse Transcriptase Polymerase Chain Reaction<br/>Ribosomal Protein S6 Kinases, 90-kDa--genetics<br/>Sequence Analysis, DNA