A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis.
Jin
Zi-Bing
ZB
Nao-I
Nobuhisa
N
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D041441:Retinoschisis / Q000235:genetics*; D041623:Tomography, Optical Coherence
D018389:Codon, Nonsense; D005136:Eye Proteins; C108726:RS1 protein, human