TY  - GEN
AU  - Martínez-Garay,I
AU  - Ballesta,M J
AU  - Oltra,S
AU  - Orellana,C
AU  - Palomeque,A
AU  - Moltó,M D
AU  - Prieto,F
AU  - Martínez,F
TI  - Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome
SN  - 0009-9163
PY  - 2004///0720
KW  - Adult
KW  - Blotting, Southern
KW  - Child
KW  - Codon, Nonsense
KW  - genetics
KW  - Coffin-Lowry Syndrome
KW  - DNA Mutational Analysis
KW  - DNA Primers
KW  - Gene Components
KW  - Humans
KW  - Long Interspersed Nucleotide Elements
KW  - Mutation, Missense
KW  - Pedigree
KW  - Polymorphism, Single-Stranded Conformational
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Ribosomal Protein S6 Kinases, 90-kDa
KW  - Sequence Analysis, DNA
N1  - Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1046/j.1399-0004.2003.00166.x
ER  -