Article
Unexplained discrepancies in the activity--antigen ratio in congenital FX deficiencies with defects in the catalytic domain.
Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Dec 2009
Girolami A, Scarparo P, Vettore S, Candeo N, Scandellari R, Lombardi A M
Abstract excerpt
Studies on molecular biology have considerably enhanced our understanding of congenital coagulation disorders but have failed so far to supply tools for an adequate classification of defects. In fact, mutations in the same domain may give rise to different phenotypes. Conversely, mutations in different domains, controlled by different exons, may cause similar patterns. The 37 kindreds with congenital factor X...
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