title: Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
authors.affiliation: Unit of Biochemistry, Institute of Child Health (University of London),UK.
authors.forename: J
authors.initials: J
authors.lastname: Davies
authors.forename: H
authors.initials: H
authors.lastname: Christomanou
authors.forename: B
authors.initials: B
authors.lastname: Winchester
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D000795:Fabry Disease / Q000235:genetics*; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D012326:RNA Splicing; D017384:Sequence Deletion; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase