Citations for
1F9, F9D
Spectrum of factor IX gene mutations causing haemophilia B from India.
Ghosh K, Quadros L, Shetty S.
Blood Coagul Fibrinolysis lood Coagul Fibrinolysis. 2009 Apr 7. [Epub ahead of print] 2009
2F9, F9D
Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
Kwon MJ, Yoo KY, Kim HJ, Kim SH.
Haemophilia 14(5):1069-75. Epub 2008 Jul 8. 2008
3F9, F9D
Sequence and structural properties of identical mutations with varying phenotypes in human coagulation factor IX.
Chavali S, Sharma A, Tabassum R, Bharadwaj D.
Proteins 73(1):63-71. 2008
4F9, F9D
Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy.
Oldenburg J, Quenzel EM, Harbrecht U, Fregin A, Kress W, Muller CR, Hertfelder HJ, Schwaab R, Brackmann HH, Hanfland P.
Br J Haematol 98(1):240-4. 1997
5F9, F9D
A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient.
Aguilar-Martinez P, et al.
Hum Mutat 3 : 156-158. 1994
6F10, F10D, F9, F9D
Five novel point mutations : two causing haemophilia B and three causing factor X deficiency.
Odom MW, et al.
Mol Cell Probes 8 : 63-65. 1994
7F9, F9D
Haemophilia B due to a De novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene.
Vidaud D, et al.
Eur J Hum Genet 1 : 30-36. 1993
8F9, F9D
A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.
Vielhaber E, et al.
Hum Mol Genet 2 : 1309-1310. 1993
9F9, F9D
Hemophilia B Leyden : substitution of thymine for guanine at position -21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter.
Reijnen MJ, et al.
Blood 82 : 151-158. 1993
10F9, F9D
Haemophilia B : database of point mutations and short additions and deletions (fourth edition, 1993).
Giannelli F, et al.
Nucleic Acids Res 21 : 3075-3087. 1993