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...
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| Language: | en_ca |
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2013
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| Online Access: | http://hdl.handle.net/1807/65516 |