Longitudinal Clinical Follow-up and Genetic Spectrum of Patients with Rod-Cone Dystrophy associated
Compares genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or PDE6B
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Aug 13, 2013
Therapeutic Margins in a Novel Preclinical Model of Retinitis Pigmentosa
The third-most common cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosphodiesterase-6 (PDE6).
Jan 1, 1996
A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa
With a similar approach, homozygous mutations also have been found in PDE6B in the affecteds of two other ARRP families.
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