Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects

Autor: Rawley, Orla, Swystun, Laura L., Brown, Christine, Nesbitt, Kate, Rand, Margaret, Hossain, Taneya, Klaassen, Robert, James, Paula D., Carcao, Manuel D., Lillicrap, David *
Zdroj: In Blood Advances 10 May 2022 6(9):2908-2919
Databáze: ScienceDirect