De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa

scientific article

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1167/IOVS.03-0155
P698PubMed publication ID12882812

P50authorAnand SwaroopQ30506132
Edwin M. StoneQ37381855
Samuel G. JacobsonQ42410256
Sharon SchwartzQ86882273
Artur V CideciyanQ90596707
P2093author name stringTomas S Aleman
P433issue8
P407language of work or nameEnglishQ1860
P304page(s)3593-3597
P577publication date2003-08-01
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleDe novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa
P478volume44

Reverse relations

cites work (P2860)
Q36149592A novel missense RP1 mutation in retinitis pigmentosa
Q90356391Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa
Q53155688Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
Q36717081Genetic factors modifying clinical expression of autosomal dominant RP.
Q37678795Induced pluripotent stem cells for retinal degenerative diseases: a new perspective on the challenges
Q54449556Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
Q36734545Perspective on genes and mutations causing retinitis pigmentosa
Q36585455Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins
Q30440790Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families
Q37952620RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation
Q37239675The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background
Q33239006Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population
Q36661278Tissue inhibitors of metalloproteinases (TIMPs): their biological functions and involvement in oral disease
Q38074177Translating induced pluripotent stem cells from bench to bedside: application to retinal diseases
Q38801986Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration
Q37543267What drives cell morphogenesis: a look inside the vertebrate photoreceptor