@article{6fd82aa146584730a0c4c9868197c05a,
title = "Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition",
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.",
author = "Tuddenham, {E. G.D.} and R. Schwaab and J. Seehafer and Millar, {D. S.} and J. Gitschier and M. Higuchi and S. Bidichandani and Connor, {J. M.} and Hoyer, {L. W.} and A. Yoshioka and Peake, {I. R.} and K. Olek and Kazazian, {H. H.} and Lavergne, {J. M.} and F. Giannelli and Antonarakis, {S. E.} and Cooper, {D. N.}",
year = "1994",
month = nov,
day = "11",
doi = "10.1093/nar/22.22.4851",
language = "English (US)",
volume = "22",
pages = "4851--4868",
journal = "Nucleic Acids Research",
issn = "1362-4962",
publisher = "Oxford University Press",
number = "22",
}