Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis.
Hiraoka
M
M
Eye Research Institute, Oakland University, Rochester, MI 48309, USA.
Trese
M T
MT
Shastry
B S
BS
D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D012164:Retinal Diseases / Q000235:genetics*; D014960:X Chromosome
D005136:Eye Proteins; C108726:RS1 protein, human