Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.

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第一作者： Lijie,Yan

第一单位： Department of Hematology, Qilu Hospital of Shandong University, No. 107 Wenhua West Road, Jinan, China.

作者： Lijie,Yan ^[1] ; Tiantian,Wang ^[2] ; Jihua,Qiu ^[3] ; Xinsheng,Zhang ^[2] ; Jun,Peng ^[1] ; Yunhai,Fang ^[4] ; Zi,Sheng ^[5]

作者单位： Department of Hematology, Qilu Hospital of Shandong University, No. 107 Wenhua West Road, Jinan, China. ^[1] Shandong Blood Center, Shandong Hemophilia Treatment Center, No. 22, Shanshi East Road, Jinan, China. ^[2] Department of Geriatric Medicine, Qilu Hospital of Shandong University, Jinan, China. ^[3] State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, China. ^[4] Shandong Blood Center, Shandong Hemophilia Treatment Center, No. 22, Shanshi East Road, Jinan, China. fyhhbln@163.com. ^[5] Department of Hematology, Qilu Hospital of Shandong University, No. 107 Wenhua West Road, Jinan, China. 18253161059@163.com. ^[6] Department of Geriatric Medicine, Qilu Hospital of Shandong University, Jinan, China. 18253161059@163.com. ^[7]

关键词 Coagulation factor XIII Compound heterozygote F13A1 gene Inherited FXIII deficiency Missense mutation

主题词人类(Humans);因子ⅩⅢa(Factor XIIIa);因子ⅩⅢ缺乏(Factor XIII Deficiency);因子ⅩⅢ(Factor XIII);突变(Mutation);出血(Hemorrhage)

DOI 10.1007/s12185-023-03594-y

PMID 37059930

发布时间 2023-06-23

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