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Keywords: Gene mutationClose
Acta Haematol (2023) 146 (3): 253–259.
Published Online: 05 June 2023
... or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Fibrinogen Gene mutation...
Acta Haematol (2023) 146 (2): 106–116.
Published Online: 20 April 2023
...Shuting Jiang; Yuan Chen; Meina Liu; Manlin Zeng; Lihong Yang; Yanhui Jin; Kaiqi Jia; Mingshan Wang Introduction: Mutations in the F11 gene can cause factor XI (FXI) deficiency, leading to abnormal coagulation activity and injury-related bleeding tendency. Therefore, identifying F11 gene mutations...
Acta Haematol (2021) 144 (6): 712–716.
Published Online: 19 July 2021
...Rujiao Dong; Guoliang Chen; Yanhui Jin; Mingshan Wang; Xiaoli Cheng; Yi Chen Hereditary factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by F5 gene mutations. The objective of this study was to investigate the p.Phe218Ser and p.Gly304Glu variants found in 2 families...
Acta Haematol (2018) 139 (1): 60–66.
Published Online: 15 February 2018
... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2018 Erythrocyte membrane protein Gene mutation Hereditary spherocytosis Hereditary spherocytosis (HS...
Xiong-hua Sun, Zhao-yue Wang, Hai-yan Yang, Li-juan Cao, Jian Su, Zi-qiang Yu, Xia Bai, Chang-geng Ruan
Acta Haematol (2013) 129 (2): 106–113.
Published Online: 27 November 2012
... Döhle body-like granulocyte inclusions. In this study we report 10 unrelated patients with MYH9-RD in whom the following seven MYH9 gene mutations were found: W33R, p.Q1443_K1445dup, R702H, D1424N, E1841K, R1933X, and E1945X (the first two were novel mutations). The region of the MYH9 mutation...