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Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in .

Blood. 2017; 
Seo Aaron,Ben-Harosh Miri,Sirin Mehtap,Stein Jerry,Dgany Orly,Kaplelushnik Joseph,Hoenig Manfred,Pannicke Ulrich,Lorenz Myriam,Schwarz Klaus,Stockklausner Clemens,Walsh Tom,Gulsuner Suleyman,Lee Ming K,Sendamarai Anoop,Sanchez-Bonilla Marilyn,King Mary-Claire,Cario Holger,Kulozik Andreas E,Debatin Klaus-Michael,Schulz Ansgar,Tamary Hannah,Shimamura A
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Custom Vector Construction Plasmids: The THPO WT and R99W (295C>T) cDNAs were purchased from Genscript (Genscript, Piscataway, NJ) and cloned into the pcDNA3....1/myc-His expression vector (Genscript, Piscataway, NJ). Get A Quote

摘要

We report 5 individuals in 3 unrelated families with severe thrombocytopenia progressing to trilineage bone marrow failure (BMF). Four of the children received hematopoietic stem cell transplants and all showed poor graft function with persistent severe cytopenias even after repeated transplants with different donors. Exome and targeted sequencing identified mutations in the gene encoding thrombopoietin (): THPO R99W, homozygous in affected children in 2 families, and THPO R157X, homozygous in the affected child in the third family. Both mutations result in a lack of THPO in the patients' serum. For the 2 surviving patients, improvement in trilineage hematopoiesis was achieved following treatment with a... More

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