title: Factor IXBasel: a Swiss family with severe haemophilia B having a point mutation in EGF type B domain.
authors.affiliation: Department of Molecular Genetics, University Children's Hospital, Basle, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Alkan
authors.forename: M
authors.initials: M
authors.lastname: Rodriguez Ponte
authors.forename: N J
authors.initials: NJ
authors.lastname: Malik
authors.forename: S
authors.initials: S
authors.lastname: Hofmann
authors.forename: N
authors.initials: N
authors.lastname: Bösch-Al Jadooa
authors.forename: H
authors.initials: H
authors.lastname: Müller
authors.forename: E M
authors.initials: EM
authors.lastname: Bühler
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004815:Epidermal Growth Factor / Q000235:genetics*; D005164:Factor IX / Q000235:genetics*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013557:Switzerland
chemical_list: C068202:factor IX Basel; D004815:Epidermal Growth Factor; D005164:Factor IX