Articles with "homozygous silent" as a keyword



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Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

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Published in 2023 at "Frontiers in Pediatrics"

DOI: 10.3389/fped.2022.1062900

Abstract: Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa… read more here.

Keywords: homozygous silent; itgb3; glanzmann thrombasthenia; itgb3 gene ... See more keywords