Ontology highlight
ABSTRACT:
SUBMITTER: Teke MY
PROVIDER: S-EPMC5042745 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Teke Mehmet Yasin MY Citirik Mehmet M Kabacam Serkan S Demircan Suleyman S Alikasifoglu Mehmet M
Molecular medicine reports 20160809 4
Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S‑antigen (SAG) and G‑protein‑dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK1 genes were amplified by polymerase chain reaction and sequenced. The patients were shown to have characteristic clinical features of Oguchi disease. Gene analysis determined a novel GRK1 mutation c. ...[more]