Associated Papers
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Dev Borman A et al.
Investigative Ophthalmology & Visual Science, 2012
Lecithin retinol acyltransferase and its S175R mutant have a similar secondary structure content and maximum insertion pressure but different enzyme activities.
Bussières S et al.
Experimental Eye Research, 2011
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander AI et al.
Investigative Ophthalmology & Visual Science, 2007
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Sweeney MO et al.
Molecular Vision, 2007
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
Sénéchal A et al.
American Journal of Ophthalmology, 2006
Select a paper to view details