Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez
Rosa
R
Fundacion Jimenez Diaz, Department Genetics, Madrid, Spain. rriveiro@fjd.es
Trujillo-Tiebas
M J
MJ
Gimenez
A
A
Cantalapiedra
D
D
Vallespin
E
E
Aguirre-Lamban
J
J
Villaverde
C
C
Ayuso
C
C
D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked; D006801:Humans; D009154:Mutation; D041441:Retinoschisis / Q000235:genetics*
D005136:Eye Proteins; C108726:RS1 protein, human