High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa
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DOI: 10.1038/srep39652
Abstract: Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified.… read more here.
Keywords: mutations affecting; retinitis pigmentosa; splicing process; autosomal dominant ... See more keywords