Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow Print PDF (151K) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (85)
Right arrowRequest Permissions
Right arrow Commercial Re-use Guidelines
for Open Access NAR Content
Google Scholar
Right arrow Articles by Giannelli, F.
Right arrow Articles by Brownlee, G. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Giannelli, F.
Right arrow Articles by Brownlee, G. G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nucleic Acids Research, Vol 26, Issue 1 265-268, Copyright © 1998 by Oxford University Press

ARTICLES

Haemophilia B: database of point mutations and short additions and deletions--eighth edition

F Giannelli, PM Green, SS Sommer, M Poon, M Ludwig, R Schwaab, PH Reitsma, M Goossens, A Yoshioka, MS Figueiredo and GG Brownlee
Paediatric Research Unit, Guy's Tower, London Bridge, London SE1 9RT, UK.

The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 NEJMHome page
P. Simioni, D. Tormene, G. Tognin, S. Gavasso, C. Bulato, N. P. Iacobelli, J. D. Finn, L. Spiezia, C. Radu, and V. R. Arruda
X-Linked Thrombophilia with a Mutant Factor IX (Factor IX Padua)
N. Engl. J. Med., October 22, 2009; 361(17): 1671 - 1675.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
M. Pinotti, D. Balestra, L. Rizzotto, I. Maestri, F. Pagani, and F. Bernardi
Rescue of coagulation factor VII function by the U1+5A snRNA
Blood, June 18, 2009; 113(25): 6461 - 6464.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
M. Pinotti, L. Rizzotto, D. Balestra, M. A. Lewandowska, N. Cavallari, G. Marchetti, F. Bernardi, and F. Pagani
U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency
Blood, March 1, 2008; 111(5): 2681 - 2684.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
F. Mingozzi, N. C. Hasbrouck, E. Basner-Tschakarjan, S. A. Edmonson, D. J. Hui, D. E. Sabatino, S. Zhou, J. F. Wright, H. Jiang, G. F. Pierce, et al.
Modulation of tolerance to the transgene product in a nonhuman primate model of AAV-mediated gene transfer to liver
Blood, October 1, 2007; 110(7): 2334 - 2341.
[Abstract] [Full Text] [PDF]

Home page
 SEMIN CARDIOTHORAC VASC ANESTHHome page
S. T. Morozowich, B. S. Donahue, and I. J. Welsby
Genetics of coagulation: considerations for cardiac surgery.
Seminars in Cardiothoracic and Vascular Anesthesia, December 1, 2006; 10(4): 297 - 313.
[Abstract] [PDF]

Home page
 BloodHome page
J. Schuettrumpf, R. W. Herzog, A. Schlachterman, A. Kaufhold, D. W. Stafford, and V. R. Arruda
Factor IX variants improve gene therapy efficacy for hemophilia B
Blood, March 15, 2005; 105(6): 2316 - 2323.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
A. D. Shapiro, J. D. Paola, A. Cohen, K. J. Pasi, M. A. Heisel, V. S. Blanchette, T. C. Abshire, W. K. Hoots, J. M. Lusher, C. Negrier, et al.
The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B
Blood, January 15, 2005; 105(2): 518 - 525.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
D.-Y. Jin, T.-P. Zhang, T. Gui, D. W. Stafford, and P. E. Monahan
Creation of a mouse expressing defective human factor IX
Blood, September 15, 2004; 104(6): 1733 - 1739.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Huang, B. C. Furie, and B. Furie
Crystal Structure of the Calcium-stabilized Human Factor IX Gla Domain Bound to a Conformation-specific Anti-factor IX Antibody
J. Biol. Chem., April 2, 2004; 279(14): 14338 - 14346.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
E. W. Davie
A Brief Historical Review of the Waterfall/Cascade of Blood Coagulation
J. Biol. Chem., December 19, 2003; 278(51): 50819 - 50832.
[Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
K. Sichler, E. Kopetzki, R. Huber, W. Bode, K.-P. Hopfner, and H. Brandstetter
Physiological fIXa Activation Involves a Cooperative Conformational Rearrangement of the 99-Loop
J. Biol. Chem., January 31, 2003; 278(6): 4121 - 4126.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
K. E. M. Persson, B. O. Villoutreix, A.-M. Thamlitz, K. E. Knobe, and J. Stenflo
The N-terminal Epidermal Growth Factor-like Domain of Coagulation Factor IX. PROBING ITS FUNCTIONS IN THE ACTIVATION OF FACTOR IX AND FACTOR X WITH A MONOCLONAL ANTIBODY
J. Biol. Chem., September 13, 2002; 277(38): 35616 - 35624.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
Y.-J. Chang, H.-L. Wu, N. Hamaguchi, Y.-C. Hsu, and S.-W. Lin
Identification of Functionally Important Residues of the Epidermal Growth Factor-2 Domain of Factor IX by Alanine-scanning Mutagenesis. RESIDUES ASN89-GLY93 ARE CRITICAL FOR BINDING FACTOR VIIIa
J. Biol. Chem., July 5, 2002; 277(28): 25393 - 25399.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
H.-P. Yang, A. Y. Tanikawa, and A. S. Kondrashov
Molecular Nature of 11 Spontaneous de Novo Mutations in Drosophila melanogaster
Genetics, March 1, 2001; 157(3): 1285 - 1292.
[Abstract] [Full Text]

Home page
 BloodHome page
J.-M. Costa, D. Vidaud, I. Laurendeau, M. Vidaud, E. Fressinaud, J.-P. Moisan, A. David, D. Meyer, and J.-M. Lavergne
Somatic mosaicism and compound heterozygosity in female hemophilia B
Blood, August 15, 2000; 96(4): 1585 - 1587.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. J. McGettrick, V. Knott, A. Willis, and P. A. Handford
Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context
Hum. Mol. Genet., August 12, 2000; 9(13): 1987 - 1994.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
D. P. Reinhardt, R. N. Ono, H. Notbohm, P. K. Muller, H. P. Bachinger, and L. Y. Sakai
Mutations in Calcium-binding Epidermal Growth Factor Modules Render Fibrillin-1 Susceptible to Proteolysis. A POTENTIAL DISEASE-CAUSING MECHANISM IN MARFAN SYNDROME
J. Biol. Chem., April 14, 2000; 275(16): 12339 - 12345.
[Abstract] [Full Text] [PDF]

Home page
 Arterioscler. Thromb. Vasc. Bio.Home page
K. Kurachi and S. Kurachi
Genetic Mechanisms of Age Regulation of Blood Coagulation : Factor IX Model
Arterioscler Thromb Vasc Biol, April 1, 2000; 20(4): 902 - 906.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
P. H. N. Celie, P. J. Lenting, and K. Mertens
Hydrophobic Contact between the Two Epidermal Growth Factor-like Domains of Blood Coagulation Factor IX Contributes to Enzymatic Activity
J. Biol. Chem., January 7, 2000; 275(1): 229 - 234.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
E. K. LeMosy, C. L. Leclerc, and C. Hashimoto
Biochemical Defects of Mutant nudel Alleles Causing Early Developmental Arrest or Dorsalization of the Drosophila Embryo
Genetics, January 1, 2000; 154(1): 247 - 257.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
A. Mathur and S. P. Bajaj
Protease and EGF1 Domains of Factor IXa Play Distinct Roles in Binding to Factor VIIIa. IMPORTANCE OF HELIX 330 (HELIX 162 IN CHYMOTRYPSIN) OF PROTEASE DOMAIN OF FACTOR IXa IN ITS INTERACTION WITH FACTOR VIIIa
J. Biol. Chem., June 25, 1999; 274(26): 18477 - 18486.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
P. Whiteman, R. S. Smallridge, V. Knott, J. J. Cordle, A. K. Downing, and P. A. Handford
A G1127S Change in Calcium-binding Epidermal Growth Factor-like Domain 13 of Human Fibrillin-1 Causes Short Range Conformational Effects
J. Biol. Chem., May 11, 2001; 276(20): 17156 - 17162.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.