Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
Whitney L. Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, Gulsen Akay, Matt Velinder, Peter Johnson, Chad VanSant-Webb, Rebecca Margraf, Eric Briggs, Kevin J Whitehead, Jennifer Thomson, Angela E Lin, Reed E Pyeritz, Gabor Marth, Pinar Bayrak-Toydemir
Journal of Medical Genetics Dec 2018, 55 (12) 824-830; DOI: 10.1136/jmedgenet-2018-105561