Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
Li S et al.
Genetic Testing and Molecular Biomarkers, 2018
29425069 (PubMed )
Supplement: sj-pdf-1-gtm-10.1089_gtmb.2017.0223.pdf
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Kabir F et al.
Molecular Vision, 2016
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
Chassine T et al.
The British Journal of Ophthalmology, 2015
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
Audo I et al.
Human Mutation, 2012
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.
Liu Q et al.
Plos One, 2012
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
Riazuddin SA et al.
Investigative Ophthalmology & Visual Science, 2005
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