1 | F9, 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
|
2 | F9, 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
|
3 | F9, 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
|
4 | F9, 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
|
5 | F9, 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
|
6 | F10, 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
|
7 | F9, 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
|
8 | F9, 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
|
9 | F9, 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
|
10 | F9, 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
|