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先天性静止性夜盲的视网膜电图特性 被引量:1

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出处 《中华眼科杂志》 CAS CSCD 北大核心 1989年第4期203-205,共3页 Chinese Journal of Ophthalmology
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参考文献2

  • 1徐西京,眼科学报,1987年,3期,186页
  • 2吴乐正,中华眼科杂志,1987年,23卷,333页

同被引文献16

  • 1睢瑞芳,李凤荣,赵家良,姜茹欣,沈岩.完全型X连锁先天性静止性夜盲临床和基因研究[J].中华眼底病杂志,2007,23(3):184-188. 被引量:5
  • 2Miyake Y, Yagasaki K, Horiguchi M, et al. Congenital stationary night blindness with negative electroretinogram : a new classification. Arch Ophthalmol, 1986,104 : 1013-1020.
  • 3Jensen H, Warburg M, Sjti O, et al. Duchenne muscular dystrophy : negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness. J Med Genet, 1995,32:348-351.
  • 4Jacobi FK, Andr6asson S, Langrova H. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes Arch Clin Exp Ophthalmol,2002,240 : 822-828.
  • 5Marmor MF, Holder GE, Seeliger MW, et al. Standard for clinical electmretinography. Doc Ophthalmol,2004,108 : 107-114.
  • 6Miyake Y. Establishment of the concept of new clinical entities: complete and incomplete form of congenital stationary night blindness. Nihon Ganka Gakka/Zassh1,2002,106:737-756.
  • 7Rosner M, Hefetz L, Abraham FA. The prevalence of retinitis pigmentosa and congenital stationary night blindness in Israel. Am J Ophthalmol, 1993,116:373-374.
  • 8Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophth almol, 2000,35 : 204 -213.
  • 9Boycott KM, Maybaum TA, Naylor M J, et al. A summary of 20 CACNAIF mutations identified in 36 families with incomplete X- linked congenital stationary night blindness, and characterization of splice variants. Hum Genet, 2001,108:91-97.
  • 10Waheed NK, Qavi AH, Malik SN, et al. A nonsense mutation in S- antigen( p. Glu306 * )causes Oguchi disease. Mol Vis, 2012,18: 1253-1259.

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