Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

c-CBL (CBL) encodes a member of the Cbl family of proteins, which functions as an E3 ubiquitin ligase. We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by constitutional anomalies that include impaired growth, developmental delay, c...

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Publicado no:Nat Genet
Main Authors: Niemeyer, Charlotte M., Kang, Michelle W., Shin, Danielle H., Furlan, Ingrid, Erlacher, Miriam, Bunin, Nancy J, Bunda, Severa, Finklestein, Jerry Z., Gorr, Thomas A., Mehta, Parinda, Schmid, Irene, Kropshofer, Gabriele, Corbacioglu, Selim, Lang, Peter J, Klein, Christoph, Schlegel, Paul-Gerhard, Heinzmann, Andrea, Schneider, Michaela, Starý, Jan, van den Heuvel-Eibrink, Marry M., Hasle, Henrik, Locatelli, Franco, Sakai, Debbie, Archambeault, Sophie, Chen, Leslie, Russell, Ryan C., Sybingco, Stephanie S., Ohh, Michael, Braun, Benjamin S., Flotho, Christian, Loh, Mignon L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297285/
https://ncbi.nlm.nih.gov/pubmed/20694012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.641
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