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LEBER CONGENITAL AMAUROSIS 5
Known as:
Amaurosis congenita of Leber, type 5
, LCA5
, Leber congenital amaurosis, type 5
National Institutes of Health
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Related topics
Related topics
2 relations
LCA5 gene
Broader (1)
Leber Congenital Amaurosis
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
rAAV-mediated gene augmentation improves retinal and visual function and retinal structure in a mouse model for LCA5
Ji Yun Song
,
Puya Aravand
,
I. McNamara
,
Junwei Sun
,
A. Lyubarsky
,
J. Bennett
2016
Corpus ID: 90268005
2010
2010
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).
E. Vallespín
,
A. Avila-Fernandez
,
+7 authors
C. Ayuso
Human Genetics
2010
Corpus ID: 8089413
2010
2010
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
I. Perrault
,
S. Hanein
,
+14 authors
J. Rozet
Human Mutation
2010
Corpus ID: 26548744
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary…
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2010
2010
Identification of 3 Novel Mutations in LCA5 (Lebercilin) in Leber’s Congenital Amaurosis Families
M. Al-Araimi
,
J. Poulter
,
+7 authors
C. Toomes
2010
Corpus ID: 82829982
2009
2009
LCA5, a Rare Genetic Cause of Leber Congenital Amaurosis in Koreans
M. Seong
,
S. Kim
,
Y. Yu
,
Jeong-Min Hwang
,
J. Y. Kim
,
S. Park
Ophthalmic Genetics
2009
Corpus ID: 25664739
Purpose: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a genetically heterogenous…
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2009
2009
Phenotypic Analyses of Leber Congenital Amaurosis Patients Caused by LCA5 Mutations
R. Koenekoop
,
A. I. Hollander
,
+6 authors
F. Cremers
2009
Corpus ID: 82435420
2006
2006
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA
R. Özgül
,
B. Bozkurt
,
H. Kıratlı
,
A. Öğüş
Eye
2006
Corpus ID: 8568100
BackgroundLeber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early…
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2006
2006
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
S. Hanein
,
I. Perrault
,
+9 authors
T. Léveillard
Advances in Experimental Medicine and Biology
2006
Corpus ID: 12648004
Leber congenital amaurosis (LCA) is the most early and severe form of all inherited retinal dystrophies, responsible for…
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