Occurence of haemophilia A and B in a Chinese family with mosaicism of the F9 gene mutation in the HB index's maternal grandfather.
نویسندگان
چکیده
Yeling Lu1*; Bingshou Xie4*; Qiulan Ding1; Jing Dai1; Xiaodong Xi3; Mingshan Wang5; Hongli Wang2; Xuefeng Wang1 1Clinical Transfusion Department, Ruijin Hospital affiliated to Medical College of JiaoTong University, Shanghai, China; 2Shanghai Institute of Hematology, Ruijin Hospital affiliated to Medical College of JiaoTong University, Shanghai, China; 3State Key Laboratory of Medcine Genomics, Ruijin Hospital affiliated to Medical College of JiaoTong University, Shanghai, China; 4Wenzhou third people's Hospital, Shanghai, China; 5Wenzhou first people's Hospital, Shanghai, China
منابع مشابه
Genotyping of Intron 22 and Intron 1 Inversions of Factor VIII Gene Using an Inverse-Shifting PCR Method in an Iranian Family with Severe Haemophilia A
Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...
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ورودعنوان ژورنال:
- Thrombosis and haemostasis
دوره 103 5 شماره
صفحات -
تاریخ انتشار 2010