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Article

A somatic missense mutation in GNAQ causes capillary malformation

18 Mar 2019

Abstract excerpt

PURPOSE OF REVIEW: Capillary malformations, 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 capillary malformations is not known but recent advances are helping to unravel the mechanisms. RECENT FINDINGS: The GNAQ R183Q mutation is...

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PMID: 30870248
DOI: 10.1097/moh.0000000000000500

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