Somatic Activating PIK3CA Mutations Cause Venous Malformation

Somatic mutations in TEK, the gene encoding endothelial cell tyrosine kinase receptor TIE2, cause more than half of sporadically occurring unifocal venous malformations (VMs). Here, we report that somatic mutations in PIK3CA, the gene encoding the catalytic p110α subunit of PI3K, cause 54% (27 out o...

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Bibliographic Details
Published in:Am J Hum Genet
Main Authors: Limaye, Nisha, Kangas, Jaakko, Mendola, Antonella, Godfraind, Catherine, Schlögel, Matthieu J., Helaers, Raphael, Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka
Format: Artigo
Language:Inglês
Published: Elsevier 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678782/
https://ncbi.nlm.nih.gov/pubmed/26637981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.11.011
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