Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome. [electronic resource]
Producer: 20040720Description: 491-6 p. digitalISSN:- 0009-9163
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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