title: First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.
authors.affiliation: Department of Genetics, Hospital of Sant Pau Av. Padre Claret 167 08025, Barcelona, Spain. etizzano@hsp.santpau.es
authors.forename: Eduardo F
authors.initials: EF
authors.lastname: Tizzano
authors.forename: Adoracioń
authors.initials: A
authors.lastname: Venceslá
authors.forename: Manel
authors.initials: M
authors.lastname: Baena
authors.forename: Mónica
authors.initials: M
authors.lastname: Cornet
authors.forename: María T
authors.initials: MT
authors.lastname: Calvo
authors.forename: José F
authors.initials: JF
authors.lastname: Lucía
authors.forename: Rosario
authors.initials: R
authors.lastname: Pérez Garrido
authors.forename: Ramiro
authors.initials: R
authors.lastname: Núñez
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005169:Factor VIII / Q000235:genetics*; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
chemical_list: D005169:Factor VIII