Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy.
A rearrangement of exon 13 in the factor VIII gene has been identified as the causative mutation in 32% of Northern Italian patients with mild hemophilia A. We have demonstrated that all share a common haplotype, thus suggesting that the mutation likely occurred in a single ancestor. To date, no predominant mutation has been identified in mild hemophilia A, therefore it would be extremely useful to carry out more extensive studies to ascertain whether the mutation is confined to northern Italy.
Acquila
Maura
M
Pasino
Mirella
M
Lanza
Tiziana
T
Bottini
Federico
F
Molinari
Angelo Claudio
AC
Bicocchi
Maria Patrizia
MP
D005091:Exons; D005169:Factor VIII / Q000235:genetics; D018703:Founder Effect; D020440:Gene Duplication; D006467:Hemophilia A / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology
D005169:Factor VIII