title: Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy.
abstract: 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.
authors.forename: Maura
authors.initials: M
authors.lastname: Acquila
authors.forename: Mirella
authors.initials: M
authors.lastname: Pasino
authors.forename: Tiziana
authors.initials: T
authors.lastname: Lanza
authors.forename: Federico
authors.initials: F
authors.lastname: Bottini
authors.forename: Angelo Claudio
authors.initials: AC
authors.lastname: Molinari
authors.forename: Maria Patrizia
authors.initials: MP
authors.lastname: Bicocchi
mesh_terms: 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
chemical_list: D005169:Factor VIII