LEBER CONGENITAL AMAUROSIS 5

Known as: Amaurosis congenita of Leber, type 5, LCA5, Leber congenital amaurosis, type 5 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1987-2018
02419872018

Papers overview

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Review
2014
Review
2014
OBJECTIVE We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish… (More)
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Review
2013
Review
2013
This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis… (More)
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2011
2011
COMMUNICATION We identified a 28-year-old cognitively normal patient with severe visual loss, absent electrical signals from the… (More)
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2010
2010
OBJECTIVES To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype… (More)
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2009
2009
PURPOSE To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin… (More)
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2009
2009
PURPOSE Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a genetically heterogenous… (More)
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2008
2008
PURPOSE Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations… (More)
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2007
2007
Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or… (More)
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