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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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Gepubliceerd in: | Am J Hum Genet |
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Hoofdauteurs: | , , , , , , , , |
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
Elsevier
2015
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Onderwerpen: | |
Online toegang: | 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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