title: Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene.
abstract: Approximately 3% of hemophilia B patients have major deletions in the F9 gene, half of which are complete. Marker and quantitative PCR analyses were employed for carrier diagnosis in a family of a mentally retarded hemophilia B patient with a total deletion of the F9 gene and neighbor genes. Both methodologies allowed the confirmation of carrier or non-carrier status.
authors.forename: Adoración
authors.initials: A
authors.lastname: Venceslá
authors.forename: María Jesús
authors.initials: MJ
authors.lastname: Barceló
authors.forename: Manel
authors.initials: M
authors.lastname: Baena
authors.forename: Manuel
authors.initials: M
authors.lastname: Quintana
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
authors.forename: Eduardo F
authors.initials: EF
authors.lastname: Tizzano
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D005164:Factor IX / Q000235:genetics*; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction
chemical_list: D015415:Biomarkers; D005164:Factor IX