title: Novel trinucleotide deletion in Fabry's disease.
abstract: We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutaneous marker of Fabry's disease.
authors.affiliation: Department of Molecular Genetics, Cyprus Institute of Neurology and Genetics, Nicosia.
authors.forename: M A
authors.initials: MA
authors.lastname: Cariolou
authors.forename: M
authors.initials: M
authors.lastname: Christodoulides
authors.forename: P
authors.initials: P
authors.lastname: Manoli
authors.forename: A
authors.initials: A
authors.lastname: Kokkofitou
authors.forename: D
authors.initials: D
authors.lastname: Tsambaos
mesh_terms: D001483:Base Sequence; D000795:Fabry Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*