A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

The Src family kinase (SFK) member SRC is a major target in drug development because it is activated in many human cancers, yet deleterious SRC germline mutations have not been reported. We used genome sequencing and Human Phenotype Ontology patient coding to identify a gain-of-function mutation in...

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Xehetasun bibliografikoak
Argitaratua izan da:Sci Transl Med
Egile Nagusiak: Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K., Westbury, Sarah K., Kelly, Anne M., Selleslag, Dominik, Stephens, Jonathan C., Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J., Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V. V., Favier, Rémi, Kostadima, Myrto, Lambert, Michele P., Mathias, Mary, Millar, Carolyn M., Peerlinck, Kathelijne, Perry, David J., Schulman, Sol, Whitehorn, Deborah, Wittevrongel, Christine, De Maeyer, Marc, Rendon, Augusto, Gomez, Keith, Erber, Wendy N., Mumford, Andrew D., Nurden, Paquita, Stirrups, Kathleen, Bradley, John R., Raymond, F. Lucy, Laffan, Michael A., Van Geet, Chris, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5903547/
https://ncbi.nlm.nih.gov/pubmed/26936507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aad7666
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