Condition: Thrombophilia, X-Linked, Due To Factor Ix Defect


rs137852227 in F9 gene and Thrombophilia, X-Linked, Due To Factor Ix Defect PMID 23093250 2013 Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

PMID 1969838 1990 Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

PMID 27824213 2016 Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.

PMID 25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

PMID 18624698 2008 Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

PMID 2198809 1990 Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.

PMID 2472424 1989 Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

PMID 19699296 2009 Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.

PMID 22639855 2012 Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.

PMID 29993188 2018 The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

PMID 22544209 2012 Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.

PMID 2066105 1991 CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

PMID 1864609 1991 T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.