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
The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy.
Nanda A et al.
American Journal of Ophthalmology, 2019
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
Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.
Chang S et al.
Current Genomics, 2011
Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
Chen LJ et al.
Investigative Ophthalmology & Visual Science, 2010
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].
Wang DY et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005
Gene mutations in retinitis pigmentosa and their clinical implications.
Wang DY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
Berson EL et al.
Investigative Ophthalmology & Visual Science, 2001
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Human Molecular Genetics, 1999
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Sullivan LS et al.
Nature Genetics, 1999
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