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A somatic missense mutation in GNAQ causes capillary malformation

PURPOSE OF THE REVIEW: Capillary malformations (CM), the most common type of vascular malformation, are caused by a somatic mosaic mutation in GNAQ, which encodes the Gαq subunit of heterotrimeric G-proteins. How the single amino acid change – predicted to activate Gαq - causes CM is not known but r...

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Dades bibliogràfiques
Publicat a:Curr Opin Hematol
Autors principals: Bichsel, Colette, Bischoff, Joyce
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8142900/
https://ncbi.nlm.nih.gov/pubmed/30870248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOH.0000000000000500
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