Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens

Autor: Vanja Karamatic Crew, Louise A. Tilley, Timothy J. Satchwell, Samah A. AlSubhi, Benjamin Jones, Frances A. Spring, Piers J. Walser, Catarina Martins Freire, Nicoletta Murciano, Maria Giustina Rotordam, Svenja J. Woestmann, Marwa Hamed, Reem Alradwan, Mouza AlKhrousey, Ian Skidmore, Sarah Lewis, Shimon Hussain, Jane Jackson, Tom Latham, Mark D. Kilby, William Lester, Nadine Becker, Markus Rapedius, Ashley M. Toye, Nicole M. Thornton

Publikováno v: Karamatic Crew, V, Tilley, L A, Satchwell, T, Alsubhi, S A O, Toye, A M & Thornton, N M 2023, ' Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens ', Blood, vol. 141, no. 2, pp. 135-146 . https://doi.org/10.1182/blood.2022016504

Despite the identification of the high-incidence red cell antigen Era nearly 40 years ago, the molecular background of this antigen, together with the other 2 members of the Er blood group collection, has yet to be elucidated. Whole exome and Sanger

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https://doi.org/10.1182/blood.2022016504