Art
J-GLOBAL ID:201602220544835764   Reference number:16A0864862

Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia

先天性色覚障害の日本人患者での網膜錐体環状ヌクレオチド開口型チャンネルのαサブユニットに対する遺伝子における新規突然変異
Author (15):
Material:
Volume: 60  Issue:Page: 187-197  Publication year: May. 2016 
JST Material Number: G0421C  ISSN: 0021-5155  Document type: Article
Article type: 原著論文  Country of issue: Germany, Federal Republic of (DEU)  Language: ENGLISH (EN)
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JST classification (2):
JST classification
Category name(code) classified by JST.
Eye diseases  ,  Congenital diseases,deformities in general. 
Reference (52):
  • Alpern M, Falls HF, Lee GB. The enigma of typical total monochromacy. Am J Ophthalmol. 1960;50:996-1012.
  • Harrison R, Hoefnagel D, Hayward JN. Congenital total color blindness. A clinicopathological report. Arch Ophthalmol. 1960;64:685-92.
  • Andréasson S, Tornqvist K. Electroretinograms in patients with achromatopsia. Acta Ophthalmol (Copenh). 1991;69:711-6.
  • Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005;25:248-58.
  • Khan NW, Wissinger B, Kohl S, Sieving PA. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci. 2007;48:3864-71.
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