TY - GEN AU - Hofmann,Inga AU - Geer,Mitchell J AU - Vögtle,Timo AU - Crispin,Andrew AU - Campagna,Dean R AU - Barr,Alastair AU - Calicchio,Monica L AU - Heising,Silke AU - van Geffen,Johanna P AU - Kuijpers,Marijke J E AU - Heemskerk,Johan W M AU - Eble,Johannes A AU - Schmitz-Abe,Klaus AU - Obeng,Esther A AU - Douglas,Michael AU - Freson,Kathleen AU - Pondarré,Corinne AU - Favier,Rémi AU - Jarvis,Gavin E AU - Markianos,Kyriacos AU - Turro,Ernest AU - Ouwehand,Willem H AU - Mazharian,Alexandra AU - Fleming,Mark D AU - Senis,Yotis A TI - Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice SN - 1528-0020 PY - 2019///0729 KW - Adolescent KW - Adult KW - Animals KW - Blood Platelets KW - metabolism KW - Child KW - Child, Preschool KW - Female KW - Gene Knock-In Techniques KW - Humans KW - Infant KW - Loss of Function Mutation KW - Male KW - Megakaryocytes KW - Mice KW - Mice, Inbred C57BL KW - Mice, Knockout KW - Pedigree KW - Primary Myelofibrosis KW - congenital KW - Receptors, Immunologic KW - genetics KW - Thrombocytopenia KW - Young Adult N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1182/blood-2017-08-802769 ER -