Associated Papers
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Kabir F et al.
Molecular Vision, 2016
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
Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
Singh HP et al.
Investigative Ophthalmology & Visual Science, 2009
Select a paper to view details