Associated Papers
MERTK mutation update in inherited retinal diseases.
Audo I et al.
Human Mutation, 2018
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW et al.
Investigative Ophthalmology & Visual Science, 2011
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW et al.
Investigative Ophthalmology & Visual Science, 2010
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