Associated Papers
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy.
Kitiratschky VB et al.
Ophthalmic Genetics, 2011
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
Nishiguchi KM et al.
Investigative Ophthalmology & Visual Science, 2004
Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies.
Payne AM et al.
Journal of Medical Genetics, 1999
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