title: The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations.
abstract: The aim of this study was to analyze the mutation pattern causing hemophilia A in a population from Southern Spain. Mutation analysis identified the mutation in 99 of the 109 unrelated patients enrolled in the Hemophilia Registry from Andalusia. About 54% of non-inversion mutations identified were previously unreported.
authors.forename: Olga
authors.initials: O
authors.lastname: Fernández-López
authors.forename: José-Raúl
authors.initials: JR
authors.lastname: García-Lozano
authors.forename: Ramiro
authors.initials: R
authors.lastname: Núñez-Vázquez
authors.forename: Rosario
authors.initials: R
authors.lastname: Pérez-Garrido
authors.forename: Antonio
authors.initials: A
authors.lastname: Núñez-Roldán
mesh_terms: D019943:Amino Acid Substitution; D007446:Chromosome Inversion; D041321:Chromosomes, Human, X / Q000235:genetics*; D018899:CpG Islands / Q000235:genetics; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D013030:Spain / Q000453:epidemiology
chemical_list: D005169:Factor VIII