Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

Martínez-Garay, I

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. [electronic resource] - Clinical genetics Dec 2003 - 491-6 p. digital

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

0009-9163

10.1046/j.1399-0004.2003.00166.x doi


Adult
Blotting, Southern
Child
Codon, Nonsense--genetics
Coffin-Lowry Syndrome--genetics
DNA Mutational Analysis
DNA Primers
Gene Components
Humans
Long Interspersed Nucleotide Elements--genetics
Mutation, Missense--genetics
Pedigree
Polymorphism, Single-Stranded Conformational
Reverse Transcriptase Polymerase Chain Reaction
Ribosomal Protein S6 Kinases, 90-kDa--genetics
Sequence Analysis, DNA