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

Despite the identification of the high-incidence red cell antigen Er(a) 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 sequencing of individuals with serologically def...

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Detalles Bibliográficos
Autores principales: Karamatic Crew, Vanja, Tilley, Louise A., Satchwell, Timothy J., AlSubhi, Samah A., Jones, Benjamin, Spring, Frances A., Walser, Piers J., Martins Freire, Catarina, Murciano, Nicoletta, Rotordam, Maria Giustina, Woestmann, Svenja J., Hamed, Marwa, Alradwan, Reem, AlKhrousey, Mouza, Skidmore, Ian, Lewis, Sarah, Hussain, Shimon, Jackson, Jane, Latham, Tom, Kilby, Mark D., Lester, William, Becker, Nadine, Rapedius, Markus, Toye, Ashley M., Thornton, Nicole M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society of Hematology 2023
Materias:
Plenary Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644042/
https://www.ncbi.nlm.nih.gov/pubmed/36122374
http://dx.doi.org/10.1182/blood.2022016504

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