title: A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
authors.affiliation: Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Fuchs
authors.forename: S Y
authors.initials: SY
authors.lastname: Xu
authors.forename: M
authors.initials: M
authors.lastname: Caballero
authors.forename: M
authors.initials: M
authors.lastname: Salcedo
authors.forename: A
authors.initials: A
authors.lastname: La O
authors.forename: H
authors.initials: H
authors.lastname: Wedemann
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000453:epidemiology / Q000235:genetics*; D003462:Cuba / Q000453:epidemiology; D003638:Deafness / Q000453:epidemiology / Q000235:genetics; D005091:Exons; D005124:Eye Abnormalities / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014960:X Chromosome