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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Vydáno v:Blood
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2018
Témata:
Platelets and Thrombopoiesis
On-line přístup: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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