Two Japanese patients with mutations in the XLRS1 gene.
Tuvdendorj
Demidmaa
D
Department of Ophthalmology, Kagoshima University Faculty of Medicine, Kagoshima, Japan.
Isashiki
Yasushi
Y
Ohba
Norio
N
Sonoda
Shozo
S
Izumo
Shuji
S
D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
D005136:Eye Proteins; C108726:RS1 protein, human