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Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model
This study supports a role for CNGA1 as a disease gene for arRP and provides new insights on the pathobiology of cGMP-binding domain . . .
Dec 15, 2022


Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families
Purpose: identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with RP in Chinese families.
Jan 15, 2022


Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
CERKL mutations are an uncommon cause of arRP, but they are a significant cause of disease in populations with founder mutations
Dec 12, 2020


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
Apr 18, 2018


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).
Aug 14, 2013


A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with arRP, we identified a shared 1.7 Mb homozygous region on chromosome 1p36.1
Feb 11, 2011


A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa
We studied 24 families with inherited retinal degenerations for mutations in the genes PDE6B, MYL5, PDE6C, CNCG, RHO, ROM1, RDS-peripherin.
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.
Jan 1, 1996
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