Now showing items 1-3 of 3
Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family
Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin ...
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterisation of the protein in the eye
(Association for Research in Vision and Ophthalmology, 2012-06-06)
Purpose. Glaucoma is the leading cause of irreversible blindness worldwide. Primary open angle glaucoma (POAG) is the most common subtype. We recently reported association of genetic variants at chromosomal loci, 1q24 and ...
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
(Nature Publishing Group, 2011)
A genome-wide association study (GWAS) for open angle glaucoma (OAG) blindness was conducted using a discovery cohort of 590 cases with severe visual field loss and 3956 controls. Genome-wide significant associations were ...