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Article

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

Blood - 17 Aug 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 Akiko

Abstract excerpt

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):...

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Source

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Identifiers

PMID: 28559357
DOI: 10.1182/blood-2017-02-768036
PMCID: PMC5561901

Genes

THPO
BMF
MPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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