[Pathogenesis and diagnosis of hereditary stomatocytosis].
作者信息
Li J Q, Qian B H
机构信息
Department of Transfusion Medicine, Changhai Hospital Naval Military Medical University, PLA Research & Innovation Base of Pediatric Hemolytic Anemia, Shanghai 200433, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2020 Jun 14;41(6):521-524. doi: 10.3760/cma.j.issn.0253-2727.2020.06.018.
Abstract
摘要
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本文引用的文献
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The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.遗传性口形红细胞增多症患者红细胞阳离子通透性改变的分子基础。
Front Physiol. 2018 Apr 16;9:367. doi: 10.3389/fphys.2018.00367. eCollection 2018.
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Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.通过靶向二代测序诊断的伴有PIEZO1剪接位点突变、酷似骨髓增生异常综合征的遗传性脱水口形红细胞增多症。
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Disorders of erythrocyte hydration.红细胞水合异常
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Hereditary stomatocytosis: An underdiagnosed condition.遗传性口形红细胞增多症：一种被低估的病症。
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New insights on hereditary erythrocyte membrane defects.遗传性红细胞膜缺陷的新见解。
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