Abstract
We report rare monoallelic variants of THPO that alter intracellular trafficking and diminish thrombopoietin secretion.
Affected cases have autosomal-dominant thrombocytopenia but no other hematological features.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Humans
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Isoxazoles
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Thrombocytopenia* / genetics
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Thrombopoietin
Substances
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Isoxazoles
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4,5,6,7-tetrahydroisoxazolo(4,5-c)pyridin-3-ol
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Thrombopoietin