title: Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Fujinami
authors.forename: Masakazu
authors.initials: M
authors.lastname: Akahori
authors.forename: Masaki
authors.initials: M
authors.lastname: Fukui
authors.forename: Kazushige
authors.initials: K
authors.lastname: Tsunoda
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D004596:Electroretinography; D005091:Exons / Q000235:genetics; D005451:Fluorescein Angiography; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D000080362:Stargardt Disease; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology*; D058609:Visual Field Tests
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters