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Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
Rose, Anna M.; Shah, Amna Z.; Venturini, Giulia; Krishna, Abhay; Chakravarti, Aravinda; Rivolta, Carlo; Bhattacharya, Shomi S. (Nature Publishing Group, 2016)PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are ...