Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT - Bernabéu-Herrero, Maria E.; Patel, Dilipkumar; Bielowka, Adrianna; Zhu, JiaYi; Jain, Kinshuk; Mackay, Ian S.; Chaves Guerrero, Patricia; Emanuelli, Giulia; Jovine, Luca; Noseda, Michela; Marciniak, Stefan J.; Aldred, Micheala A.; et al. (Blood, 2024)
Keywords: Activin Receptors, Type II - genetics; Codon, Nonsense; Endoglin - genetics; Endoglin - metabolism; Endothelial Cells - metabolism; Endothelial Cells - pathology; Female; Humans; Male; Mutation; Nonsense Mediated mRNA Decay; Smad4 Protein - genetics; Telangiectasia, Hereditary Hemorrhagic - genetics; Telangiectasia, Hereditary Hemorrhagic - pathology; Vascular Biology