Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia (CAMT) is a recessive disorder characterized by severe reduction of megakaryocytes and platelets at birth, which evolves toward bone marrow aplasia in childhood. CAMT is mostly caused by mutations in MPL (CAMT-MPL), the gene encoding the receptor of thromb...

Descripción completa

Detalles Bibliográficos
Autores principales: Capaci, Valeria, Adam, Etai, Bar-Joseph, Ifat, Faleschini, Michela, Pecci, Alessandro, Savoia, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2022
Materias:
ARTICLE - Platelet Biology & its Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10153527/
https://www.ncbi.nlm.nih.gov/pubmed/36226497
http://dx.doi.org/10.3324/haematol.2022.281392

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10153527/
https://www.ncbi.nlm.nih.gov/pubmed/36226497
http://dx.doi.org/10.3324/haematol.2022.281392

Ejemplares similares