Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene.
Fujinami
Kaoru
K
Akahori
Masakazu
M
Fukui
Masaki
M
Tsunoda
Kazushige
K
Iwata
Takeshi
T
Miyake
Yozo
Y
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
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters