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Ciliopathy / Organelles / Retinal Degeneration / Retinitis pigmentosa / Syndromes / Joubert syndrome / Axoneme / Bardet–Biedl syndrome / Electroretinography / Health / Biology / Ophthalmology


c Indian Academy of Sciences  REVIEW ARTICLE RPGR-containing protein complexes in syndromic and non-syndromic
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Document Date: 2009-12-31 06:26:34


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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 / /

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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 / /

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