Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro
R
R
Fundacion Jimenez Diaz, Av/Reyes Catolicos 2, Madrid, Spain. rriveiro@fjd.es
Trujillo-Tiebas
M J
MJ
Gimenez
A
A
Garcia-Hoyos
M
M
Cantalapiedra
D
D
Vallespin
E
E
Queipo
A
A
Ramos
C
C
Ayuso
C
C
D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000209:etiology / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D041441:Retinoschisis / Q000235:genetics*
D018389:Codon, Nonsense; D005136:Eye Proteins; C108726:RS1 protein, human