Article
Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2008
Lombardi Anna Maria, Bortoletto Elisabetta, Scarparo Pamela, Scapin Margherita, Santarossa Liliana, Girolami Antonio
Abstract excerpt
A group of 29 patients with congenital factor XII (FXII) deficiency belonging to nine distinct families have been investigated. All were cases of true deficiency in the sense that there was no discrepancy between FXII activity and FXII antigen. From a clotting point of view, 11 patients appeared homozygous, as both FXII activity and antigen were very low (< or =1% and traces of antigen). In other words, they were...
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