Mutations in NOTCH1 Cause Adams-Oliver Syndrome

Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch signaling components have mainly been described in disorders with vascular and bone effects. Here, we re...

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Detalhes bibliográficos
Main Authors: Stittrich, Anna-Barbara, Lehman, Anna, Bodian, Dale L., Ashworth, Justin, Zong, Zheyuan, Li, Hong, Lam, Patricia, Khromykh, Alina, Iyer, Ramaswamy K., Vockley, Joseph G., Baveja, Rajiv, Silva, Ermelinda Santos, Dixon, Joanne, Leon, Eyby L., Solomon, Benjamin D., Glusman, Gustavo, Niederhuber, John E., Roach, Jared C., Patel, Millan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4157158/
https://ncbi.nlm.nih.gov/pubmed/25132448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.07.011
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