单等位基因功能丧失性THPO变异导致遗传性血小板减少症。
Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.
作者信息
Cornish Naomi, Aungraheeta M Riyaad, FitzGibbon Lucy, Burley Kate, Alibhai Dominic, Collins Janine, Greene Daniel, Downes Kate, Westbury Sarah K, Turro Ernest, Mumford Andrew D
机构信息
Bristol Medical School.
School of Cellular and Molecular Medicine, and.
出版信息
Blood Adv. 2020 Mar 10;4(5):920-924. doi: 10.1182/bloodadvances.2019001293.
Abstract
We report rare monoallelic variants of that alter intracellular trafficking and diminish thrombopoietin secretion. Affected cases have autosomal-dominant thrombocytopenia but no other hematological features.
摘要
我们报告了罕见的单等位基因变体，这些变体改变细胞内运输并减少血小板生成素的分泌。受影响的病例患有常染色体显性血小板减少症，但无其他血液学特征。
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