Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT

Autor: 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., Shovlin, Claire L.
Zdroj: In Blood 30 May 2024 143(22):2314-2331
Databáze: ScienceDirect