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Nucleic Acids Research, 1994, Vol. 22, No. 17 3511-3533
© 1994

Articles

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. Lavergne7, 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 1 Charter Molecular Genetics Laboratory, Thrombosis Research Institute Manresa Road, London SW3 6LR, UK 2 Department of Medicine and Howard Hughes Medical Institute, University of California San Francisco 3 Johns Hopkins University Baltimore 4 American Red Cross, Rockville, USA 5 Nara Medical College Kashihara City, Nara, Japan 6 Royal Hallamshire Hospital Sheffield, UK 7 Institut für Klinische Biochemie der Universität Bonn, Germany 8 Hôpital de Bicêtre Le Kremlin-Bicêtre, France 9 Guy's Hospital London 10 Department 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 A.


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