First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
Gehrig
A
A
Weber
B H
BH
Lorenz
B
B
Andrassi
M
M
D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D015355:Glaucoma, Neovascular / Q000209:etiology; D006801:Humans; D008297:Male; D010375:Pedigree; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics*; D014960:X Chromosome
D005136:Eye Proteins; C108726:RS1 protein, human