Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene.
Nakamura
M
M
Department ofOphthalmology, Nagoya University Scool of Medine, Japan. makonaka@med.nagoya.ac.jp
Ito
S
S
Terasaki
H
H
Miyake
Y
Y
D000328:Adult; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005451:Fluorescein Angiography; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
D005136:Eye Proteins; C108726:RS1 protein, human