Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.A homogenous frameshift mutation in LRAT causes retinitis punctata albescens.The conclusions of Clemson et al. Concerning valproic acid are premature.GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.Ultrastructural localization of GPR179, and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.
author
type
label
M.M. Van Genderen
firstName
lastName
Van Genderen