伊朗甲型血友病患者的突变检测与抑制剂风险：六个新突变
Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.
作者信息
Nasirnejad Sola Farzaneh, Morovvati Saeid, Sabetghadam Moghadam Mitra, Entezari Malihe
机构信息
Department of Genetics Faculty of Advanced Sciences and Technology Islamic Azad University of Medical Sciences Tehran Iran.
Human Genetic Research Center Baqiyatallah University of Medical Sciences Tehran Iran.
出版信息
Clin Case Rep. 2020 Sep 15;8(12):2976-2985. doi: 10.1002/ccr3.3294. eCollection 2020 Dec.
Abstract
This investigation facilitates a better understanding of inhibitor development, the critical treatment morbidity in HA patients. Furthermore, six novel mutations are reported, which would expand the mutation spectrum of the gene.
摘要
这项研究有助于更好地理解抑制剂的开发，这是血友病A患者治疗中的关键发病率问题。此外，还报告了六个新的突变，这将扩大该基因的突变谱。
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