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Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

 

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Opened Access Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
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Author: Rose, Anna M.
Shah, Amna Z.
Venturini, Giulia
Krishna, Abhay
Chakravarti, Aravinda
Rivolta, Carlo
Bhattacharya, Shom Shanker
Date: 2016
Document type: Article
Abstract: PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic. We identify the major molecular cause of this incomplete penetrance through three cardinal features: (1) there i...
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URI: https://hdl.handle.net/11441/81256

DOI: 10.1038/srep19450

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