title: Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
authors.affiliation: Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
authors.forename: K M
authors.initials: KM
authors.lastname: Madsen
authors.forename: L
authors.initials: L
authors.lastname: Hasholt
authors.forename: S A
authors.initials: SA
authors.lastname: Sørensen
authors.forename: M L
authors.initials: ML
authors.lastname: Fermér
authors.forename: N
authors.initials: N
authors.lastname: Dahl
mesh_terms: D001483:Base Sequence; D003718:Denmark; D000795:Fabry Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase