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City Davenport / New York / / Company Salomon / I. Academic Press / Baker S. A. / Pinckers A. J. / Visual Sciences / Lewis S. A. / CBC / Renault / Henkel / Daiger S. P. / Jenkins S. A. / Zaghloul N. A. / / Country United States / / Currency ADP / IDR / / / Event Product Issues / / Facility Plant C. et al. / National Eye Institute / Golgi complex / Repair laboratory / University of Michigan / / IndustryTerm metabolic machinery / carrier females / animal model systems / energy / microtubule network / / MedicalCondition ciliary dysfunction / anosmia / X linked phenotype combining primary ciliary dyskinesia / mouse retinitis / X linked retinitis pigmentosa / autosomal recessive early-onset retinal degeneration / human ciliary disease / Gruber syndrome / pleiotropic disorders / mutations causing retinitis pigmentosa / Joubert syndrome / retinitis pigmentosa / X-linked recessive retinitis pigmentosa / recurrent infections / Foundation Fighting Blindness / rod photoreceptor dysfunction / developmental disorders / congenital amaurosis / dyskinesia / sinorespiratory infections / early-onset retinal degeneration / ciliary disorders / associated disease / Alstrom syndrome / USA Abstract Dysfunction / human retinitis / human genetic disease / severe disease / hearing loss / renal cystic diseases / syndromic encephalocele / COACH syndrome / Birth Defects / severe developmental and lethal disorders / night blindness / photoreceptor dysfunction / RPGR-associated disease / blindness / syndromic and non-syndromic retinal degeneration / Xlinked retinitis pigmentosa / congenital hepatic fibrosis / mental retardation / dominant retinal degeneration / cancer / cystic kidney disease / complete blindness / disease / selected RPGR-interacting ciliary disease / RPGR-interacting ciliary disease / X-linked retinitis / several disease / X-linked retinitis pigmentosa / Meckel syndrome / ciliary dysfunction CARLOS A. MURGA-ZAMALLOA1 / syndromic diseases / X linked retinitis pigmentosa syndrome / familial X-linked retinitis pigmentosa / tumour / RP2 gene cause disease / dominant gainof-function phenotype exhibiting rapid disease / retinal degeneration / milder disease / Loken syndrome / ciliary dysfunction Fishman G. A / syndromic disorders / diseases / severe genetic diseases / renal syndrome / Biedl syndrome / earlyonset retinal degeneration / Retinitis / olfactory dysfunction / disorders / / NaturalFeature Awaji island / / OperatingSystem Hurd / / Organization National Eye Institute / Midwest Eye Banks and Transplantation Center / University of Michigan / Ann Arbor / Indian Academy / Department of Ophthalmology and Visual Sciences / / Person Nat / Al Mahdi / Sharon / Van Maldergem / / Position Mayor / author / Derlacki D. J. / Hunter / cause COACH / / Product glycine / hearing / intracellular transport / sinorespiratory infections / / ProvinceOrState Maryland / New York / Michigan / Pennsylvania / / PublishedMedium Journal of Genetics / Ophthalmology / / Technology antibodies / Positional cloning / cloning / Transplantation / BBS / condensation / genotype / recombination / observed using isoform-specific RPGR antibodies / / SocialTag