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

Year: 1994
Type: article
Abstract: 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.
DOI: 10.1093/nar/22.17.3511
Authors: E.G.D. Tuddenham, R. Schwaab, J. Seehafer, D.S. Millar, J. Gitschier, M. Higuchi, S. Bidichandani, J.M. Connor, L.W. Hoyer, A. Yoshioka, I.R. Peake, K. Olek, H.H. Kazazian, J.-M. Lavergne, F. Giannelli, S.E. Antonarakis, D.N. Cooper
Institutions: Hammersmith Hospital, University of Bonn, Thrombosis Research Institute, Howard Hughes Medical Institute, University of California, San Francisco, Johns Hopkins University, American Red Cross, Nara Medical University, Royal Hallamshire Hospital, Guy's Hospital
Language: English
Subfield: Hematology
Field: Medicine
Open Access status: green
OpenAlex ID: W2169465140
FWCI: 11.77
Cites: 88
Cited by: 145
Related to: 10