Article
A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX.
Thrombosis and haemostasis - 1 Dec 2007
Ameri Afshin, Machiah Deepa K, Tran Thuy T, Channell Cynthia, Crenshaw Valerie, Fernstrom Karl, Khachidze Manana, Duncan Alexander, Fuchs Sebastien, Howard Tom E
Abstract excerpt
We identified a previously unknown mutation by sequencing the factor (F)X gene in a severely haemorrhagic 14-year-old male African-American individual with undetectable plasma FX-activity and -antigen levels. This mutation, called F10-Augusta, was homozygote and is a combination of an 8bp insertion in flanking 3'-genomic-DNA and a 5bp terminal exon-8 deletion involving codons 437 and 438. Sequencing of RT-PCR and...
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