A population-based epidemiological and genetic study of X-linked retinitis pigmentosa

scientific article published on September 2007

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1167/IOVS.07-0071
P8608Fatcat IDrelease_ssosnrvcsfextedoyaw5qsqjma
P698PubMed publication ID17724181
P5875ResearchGate publication ID6116495

P50authorThomas MeitingerQ28039310
Holger ProkischQ28050058
P2093author name stringThomas Rosenberg
Monika Hartig
Rosa Hellinger
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)4012-4018
P577publication date2007-09-01
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleA population-based epidemiological and genetic study of X-linked retinitis pigmentosa
P478volume48

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cites work (P2860)
Q37235127Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene
Q48183464Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodeling
Q51159050Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
Q90912820Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants
Q35045067Clinical characteristics and current therapies for inherited retinal degenerations
Q44935136Early visual symptom patterns in inherited retinal dystrophies
Q27005908Human parallels to experimental myopia? A literature review on visual deprivation
Q36717820Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
Q50584293Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.
Q54449556Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
Q36683600Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa
Q47073229Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish
Q42649071The human retinitis pigmentosa GTPase regulator gene variant database

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