Pandit, Bhaswati

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