The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.
作者信息
Blaauwgeers Maaike W, van Asten Ivar, Kruip Marieke J H A, Beckers Erik A M, Coppens Michiel, Eikenboom Jeroen, van Galen Karin P M, Huisman Albert, Korporaal Suzanne J A, Ploos van Amstel Hans Kristian, Tamminga Rienk Y J, Urbanus Rolf T, Schutgens Roger E G
机构信息
Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.
Van Creveld Laboratory, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.
出版信息
Am J Hematol. 2020 Jan;95(1):E26-E28. doi: 10.1002/ajh.25667. Epub 2019 Nov 13.
Abstract
摘要
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The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.基因检测在诊断疑似先天性血小板缺陷患者中的局限性。
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Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.
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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.将高通量测序引入遗传性血小板疾病的主流遗传诊断实践中。
Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5.
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Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.外显子组测序在儿童遗传性血小板疾病分子诊断中的应用及局限性
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Blood. 2016 Jun 9;127(23):2814-23. doi: 10.1182/blood-2016-03-378588. Epub 2016 Apr 19.
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