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Scholar Results 1 - 5 of 5 citing Khan: The enhanced S-cone syndrome in children. (0.07 sec) 

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene

- nih.gov
NK Wang, HF Fine, S Chang, CL Chou, W Cella … - British Medical Journal, 2009 - bjo.bmj.com
Results: Homozygous mutation in R311Q in NR2E3 was detected in this family.
Colour photographs revealed that white dots do not correlate to
hyperautofluorescent spots seen in autofluorescence imaging of the macula. ...
Cited by 4 - Related articles - All 4 versions

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre …


DF Schorderet, P Escher, EPF de Lausanne, … - Hum Mutat. Find this article online, 2009 - interscience.wiley.com
NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a
transcription factor of the nuclear hormone receptor superfamily which
expression is uniquely restricted to photoreceptors. There, its ...
Cited by 2 - Related articles - All 2 versions

[CITATION] MUTATION UPDATE


CPR Degeneration, RP RP - Hum Mutat, 2009

Cellular Origin of Fundus Autofluorescence in


NK Wang, HF Fine, S Chang… - bjo.bmj.com
NK Wang, HF Fine, S Chang, et al. ... References http://bjo.bmj.com/content/93/
9/1234.full.html#ref-list-1 This article cites 28 articles, 14 of which can be
accessed free at: ... Cellular origin of fundus autofluorescence in patients
Related articles - All 2 versions

蓝锥细胞增强症


左成果, 邢怡桥, 陈长征 - 中华眼底病杂志, 2007 - 万方数据资源系统
蓝锥细胞增强症(ESCS)是一种少见的常染色体隐性遗传性视网膜疾病,通常与NR2E3突变相关
常染色体隐性遗传有关.成年人主要表现为夜盲,眼底检查可以发现黄斑拱环周围视网膜深层 ...
Related articles - All 3 versions


 


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