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JAMA Ophthalmology
Volumn 132, Issue 10, 2014, Pages 1252-1255
Late-onset retinal degeneration caused by c1qtnf5 mutation: Sub-retinal pigment epithelium deposits and visual consequences
Author keywords

[No Author keywords available]
Indexed keywords

ADULT; AGED; AUTOFLUORESCENCE IMAGING; BRUCH MEMBRANE; CASE REPORT; GENE MUTATION; HUMAN; LATE ONSET RETINAL DEGENERATION; LETTER; MIDDLE AGED; OPTICAL COHERENCE TOMOGRAPHY; PHOTORECEPTOR; PIGMENT EPITHELIUM; RETINA CONE; RETINA DEGENERATION; RETINA ROD; RETINAL THICKNESS; FLUORESCENCE ANGIOGRAPHY; GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHOTORECEPTOR CELL; PHYSIOLOGY; RETINAL PIGMENT EPITHELIUM; VISUAL ACUITY;
EID: 84908093887     PISSN: 21686165     EISSN: 21686173     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.2059     Document Type: Letter
Times cited : (23)
References (6)
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  • 2
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    • Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: A genetic model for age-related macular degeneration
    • Hayward C, Shu X, Cideciyan AV, et al. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: A genetic model for age-related macular degeneration. Hum Mol Genet. 2003;12(20):2657-2667.
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    • Hayward, C.1    Shu, X.2    Cideciyan, A.V.3
  • 3
    • 84868507844 scopus 로고    scopus 로고
    • Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration
    • Tu X, Palczewski K. Crystal structure of the globular domain of C1QTNF5: implications for late-onset retinal macular degeneration. J Struct Biol. 2012;180 (3):439-446.
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    • Tu, X.1    Palczewski, K.2
  • 4
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    • The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration
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    • (2012) Retina. , vol.32 , Issue.8 , pp. 1643-1651
    • Vincent, A.1    Munier, F.L.2    Vandenhoven, C.C.3    Wright, T.4    Westall, C.A.5    Hn, E.6
  • 5
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    • Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration)
    • Soumplis V, Sergouniotis PI, Robson AG, et al. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). Acta Ophthalmol. 2013; 91(3):e191-e195.
    • (2013) Acta Ophthalmol. , vol.91 , Issue.3 , pp. e191-e195
    • Soumplis, V.1    Sergouniotis, P.I.2    Robson, A.G.3
  • 6
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    • Vitamin A deficiency and night blindness
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.