Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. [electronic resource]
- Nature genetics Aug 2007
- 1007-12 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
1061-4036
10.1038/ng2073 doi
Animals COS Cells Cardiomyopathy, Hypertrophic--genetics Chlorocebus aethiops Humans Intracellular Signaling Peptides and Proteins--genetics LEOPARD Syndrome--genetics Mutation, Missense Noonan Syndrome--genetics Protein Structure, Tertiary Protein Tyrosine Phosphatase, Non-Receptor Type 11 Protein Tyrosine Phosphatases--genetics Proto-Oncogene Proteins c-raf--chemistry Signal Transduction Transfection ras Proteins--metabolism