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Compound heterozygosity for two novel mutations in a severe factor XI deficiency

✍ Scribed by Akiko Tsukahara; Takayuki Yamada; Akira Takagi; Takashi Murate; Tadashi Matsushita; Hidehiko Saito; Tetsuhito Kojima

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
259 KB
Volume
73
Category
Article
ISSN
0361-8609

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πŸ“œ SIMILAR VOLUMES

A novel mutation that leads to a congeni
A novel mutation that leads to a congenital factor XI deficiency in a Japanese family
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We have identified a novel mutation leading to a congenital deficiency of the coagulation factor XI (FXI) in a Japanese family. A propositus was a 42-year-old female patient without bleeding tendency. Coagulant activity and the antigen level of FXI in her plasma were below the detectable range. The

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Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations h