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

Inga Hofmann*, Mitchell J. Geer, Timo Vogtle, Andrew Crispin, Dean R. Campagna, Alastair Barr, Monica L. Calicchio, Silke Heising, Johanna P. van Geffen, Marijke J. E. Kuijpers, Johan W. M. Heemskerk, Johannes A. Eble, Klaus Schmitz-Abe, Esther A. Obeng, Michael Douglas, Kathleen Freson, Corinne Pondarre, Remi Favier, Gavin E. Jarvis, Kyriacos MarkianosErnest Turro, Willem H. Ouwehand, Alexandra Mazharian, Mark D. Fleming, Yotis A. Senis*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Original languageEnglish
Pages (from-to)1399-1412
Number of pages14
JournalBlood
Volume132
Issue number13
DOIs
Publication statusPublished - 27 Sep 2018

Keywords

  • GRAY PLATELET SYNDROME
  • BONE-MARROW FIBROSIS
  • D DEFICIENCY RICKETS
  • IDIOPATHIC MYELOFIBROSIS
  • MYELOPROLIFERATIVE NEOPLASMS
  • MYELOID METAPLASIA
  • CHILDHOOD
  • CHILDREN
  • PROTEIN
  • GENE

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