A novel germline hyperactivating JAK2 mutation L604F

Somatic JAK2 mutations are the main molecular cause of the vast majority of polycythemia vera (PV) cases. According to a recent structural model, the prevalent acquired V617F mutation improves the stability of the JAK2 dimer, thereby enhancing the constitutive JAK2 kinase activity. Germline JAK2 mut...

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Detalles Bibliográficos
Autores principales: Dvořáček, Lukáš, Marková, Jana, Holoubek, Aleš, Grebeňová, Dana, Kundrát, David, Kuželová, Kateřina, Schwarz, Jiří
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492870/
https://www.ncbi.nlm.nih.gov/pubmed/37639050
http://dx.doi.org/10.1007/s00277-023-05423-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492870/
https://www.ncbi.nlm.nih.gov/pubmed/37639050
http://dx.doi.org/10.1007/s00277-023-05423-y

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