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)....

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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2010
Assuntos:
Research Article
Acesso em linha: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
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