Condition: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
rs121918567 in
PRPH2 gene and
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
PMID 19038374 2009 Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
PMID 20213611 2011 PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
PMID 16832026 2006 Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.