The Molecular Pathogenesis of Noonan Syndrome-Associated RAF1 Mutations
Noonan syndrome (NS) is one of several autosomal dominant “RASopathies” caused by mutations in components of the RAS-RAF-MEK-ERK MAPK pathway. Germ line mutations in RAF1 (encoding the serine-threonine kinase for MEK1/2) account for ~3-5% of NS, and unlike other NS alleles, RAF1 mutations that confe...
| Main Author: | |
|---|---|
| Other Authors: | |
| Language: | en_ca |
| Published: |
2013
|
| Subjects: | |
| Online Access: | http://hdl.handle.net/1807/65516 |
Search Result 1