Molecular defects of Factor IX

Structure, function, and molecular defects of factor IX.

A CROSS 1 3 generations and 55 affected members, the “bleeders of Tenna” in eastern Switzerland have demonstrated that hemophilia B is not necessarily severe or associated with spontaneous bleeding episodes.’ Moreover, patients with congenitally deficient factor IX activity are clinically indistinguishable from those with factor VIII deficiency, that is, hemophilia A. Both types of hemophilia a...

Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients

Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...

Molecular cloning of a cDNA encoding canine factor IX.

Factor IX (F.IX) is a vitamin K-dependent plasma protein, a deficiency of which results in hemophilia B. A canine model of hemophilia B exists; attempts to use this model for gene transfer experiments or characterization of the hemophilic defect require elucidation of normal canine F.IX structure. We report the isolation and characterization of the coding region for canine F.IX cDNA. Canine F.I...

FIRST SURVEY OF FACTOR IX INHIBITOR IN NORTHEASTERN IRAN

molecular characterization of the factor ix gene in 28 iranian hemophilia b patients

background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...