Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, unique facial features, and congenital heart disease. About 10%–15% of individuals with NS have mutations in son of sevenless 1 (SOS1), which encodes a RAS and RAC guanine nucleotide exchange factor (GEF)....

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Chen, Peng-Chieh, Wakimoto, Hiroko, Conner, David, Araki, Toshiyuki, Yuan, Tao, Roberts, Amy, Seidman, Christine E., Bronson, Roderick, Neel, Benjamin G., Seidman, Jonathan G., Kucherlapati, Raju
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2010
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2993597/
https://ncbi.nlm.nih.gov/pubmed/21041952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI43910
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker