Skip Navigation

This Article
Right arrow Print PDF (1230K)
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 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 arrowRequest Permissions
Right arrow Commercial Re-use Guidelines
for Open Access NAR Content
Google Scholar
Right arrow Articles by Tuddenham, E.G.D.
Right arrow Articles by Cooper, D.N.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Tuddenham, E.G.D.
Right arrow Articles by Cooper, D.N.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nucleic Acids Research, 1994, Vol. 22, No. 22 4851-4868
© 1994

METHODS

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

E.G.D. Tuddenham*, R. Schwaab7, J. Seehafer7, D.S. Millar1, J. Gitschier2, M. Higuchi3, S. Bidichandani10, J.M. Connor10, L.W. Hoyer4, A. Yoshioka5, I.R. Peake6, K. Olek7, H.H. Kazazian3, J.-M. Lavergne8, F. Giannelli9, S.E. Antonarakis3 and D.N. Cooper1

Haemostasis Research Group, Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital Du Cane Road, London W12 ONN 1Charter Molecular Genetics Laboratory, Thrombosis Research Institute Manresa Road, London SW3 6LR, UK 2Department of Medicine and Howard Hughes Medical Institute, University of California San Francisco 3Johns Hopkins University Baltimore 4American Red Cross Rockville, USA 5Nara Medical College Kashihara City, Nara, Japan 6Royal Hallamshire Hospital Sheffield, UK 7Institut für Klinische Biochemie der Universität Bonn, Germany 8Hôpital de Bicetre Le Kremlin-Bicêtre, France 9Guy's Hospital London 10Department of Medical Genetics, Duncan Guthrie Institute Yorkhill, Glasgow G3 8SJ, UK

*To whom correspondence should be addressed

A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia.


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
 BloodHome page
B. W. Shen, P. C. Spiegel, C.-H. Chang, J.-W. Huh, J.-S. Lee, J. Kim, Y.-H. Kim, and B. L. Stoddard
The tertiary structure and domain organization of coagulation factor VIII
Blood, February 1, 2008; 111(3): 1240 - 1247.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
P. C. Spiegel, P. Murphy, and B. L. Stoddard
Surface-exposed Hemophilic Mutations across the Factor VIII C2 Domain Have Variable Effects on Stability and Binding Activities
J. Biol. Chem., December 17, 2004; 279(51): 53691 - 53698.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
P. C. Spiegel Jr, M. Jacquemin, J.-M. R. Saint-Remy, B. L. Stoddard, and K. P. Pratt
Structure of a factor VIII C2 domain-immunoglobulin G4{kappa} Fab complex: identification of an inhibitory antibody epitope on the surface of factor VIII
Blood, July 1, 2001; 98(1): 13 - 19.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
M. Jacquemin, A. Benhida, K. Peerlinck, B. Desqueper, L. Vander Elst, R. Lavend'homme, R. d'Oiron, R. Schwaab, M. Bakkus, K. Thielemans, et al.
A human antibody directed to the factor VIII C1 domain inhibits factor VIII cofactor activity and binding to von Willebrand factor
Blood, January 1, 2000; 95(1): 156 - 163.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. Valleix, J.-C. Jeanny, S. Elsevier, R. L. Joshi, P. Fayet, D. Bucchini, and M. Delpech
Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice
Hum. Mol. Genet., July 1, 1999; 8(7): 1291 - 1301.
[Abstract] [Full Text] [PDF]

Home page
 Arterioscler. Thromb. Vasc. Bio.Home page
M. Kalafatis and K. G. Mann
Factor VLeiden and Thrombophilia
Arterioscler. Thromb. Vasc. Biol., April 1, 1997; 17(4): 620 - 627.
[Full Text]

Home page
 Arterioscler. Thromb. Vasc. Bio.Home page
M. Kalafatis, D. Lu, R. M. Bertina, G. L. Long, and K. G. Mann
Biochemical Prototype for Familial Thrombosis : A Study Combining a Functional Protein C Mutation and Factor V Leiden
Arterioscler. Thromb. Vasc. Biol., December 1, 1995; 15(12): 2181 - 2187.
[Abstract] [Full Text]


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.