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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)4851-4868
Number of pages18
JournalNucleic acids research
Volume22
Issue number22
DOIs
StatePublished - Nov 11 1994

ASJC Scopus subject areas

  • Genetics

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