title: Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.
abstract: Heteroduplex screening of amplified fragments containing sequences of all known small haemophilic mutations in the factor IX gene localized mutations in 18 new families: 12 were at common recurrent sites; three were novel. Carriers and/or patients from each of 41 families with mutations in 7 exons and 5' and 3' non-coding regions were positive.
authors.affiliation: Department of Pediatrics, University of Washington, Seattle.
authors.forename: S H
authors.initials: SH
authors.lastname: Chen
authors.forename: J M
authors.initials: JM
authors.lastname: Schoof
authors.forename: A F
authors.initials: AF
authors.lastname: Weinmann
authors.forename: A R
authors.initials: AR
authors.lastname: Thompson
mesh_terms: D004247:DNA / Q000032:analysis / Q000235:genetics; D005164:Factor IX / Q000235:genetics*; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics
chemical_list: D009692:Nucleic Acid Heteroduplexes; D005164:Factor IX; D004247:DNA