LCA5 gene

Known as: LEBERCILIN, CHROMOSOME 6 OPEN READING FRAME 152, LCA5 
 
National Institutes of Health

Papers overview

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2016
2016
We aim to characterize the clinical features and genetic causes for two affected siblings from a Chinese family with cone… (More)
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2015
2015
Ciliopathies are Mendelian disorders caused by dysfunction of cilia, ubiquitous organelles involved in fluid propulsion (motile… (More)
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2014
2014
Analyzing the molecular architecture of native multiprotein complexes via biochemical methods has so far been difficult and error… (More)
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2014
2014
Mutations in the FAM161A gene were previously identified as the cause for autosomal-recessive retinitis pigmentosa 28. To study… (More)
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2011
2011
The mutations that cause Leber congenital amaurosis (LCA) lead to photoreceptor cell death at an early age, causing childhood… (More)
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Highly Cited
2009
Highly Cited
2009
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier… (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
Usher syndrome (USH) and Leber congenital amaurosis (LCA) are autosomal recessive disorders resulting in syndromic and non… (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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Highly Cited
2007
Highly Cited
2007
Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show… (More)
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