Associated Papers
Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
Khan AO
Ophthalmic Genetics, 2019
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Manes G et al.
American Journal of Ophthalmology, 2015
A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
Pajic B et al.
Retina (philadelphia, Pa.), 2006
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.
Weigell-Weber M et al.
Molecular Vision, 1996
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