Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Unlike primary myelofibrosis (PMF) in adults, myelofibrosis in children is rare. Congenital (inherited) forms of myelofibrosis (cMF) have been described, but the underlying genetic mechanisms remain elusive. Here we describe 4 families with autosomal recessive inherited macrothrombocytopenia with fo...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Hofmann, Inga, Geer, Mitchell J., Vögtle, Timo, Crispin, Andrew, Campagna, Dean R., Barr, Alastair, Calicchio, Monica L., Heising, Silke, van Geffen, Johanna P., Kuijpers, Marijke J. E., Heemskerk, Johan W. M., Eble, Johannes A., Schmitz-Abe, Klaus, Obeng, Esther A., Douglas, Michael, Freson, Kathleen, Pondarré, Corinne, Favier, Rémi, Jarvis, Gavin E., Markianos, Kyriacos, Turro, Ernest, Ouwehand, Willem H., Mazharian, Alexandra, Fleming, Mark D., Senis, Yotis A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2018
Assuntos:
Platelets and Thrombopoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6161765/
https://ncbi.nlm.nih.gov/pubmed/29898956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2017-08-802769
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