A novel RP1 truncating mutation that causes autosomal dominant retinitis pigmentosa (ADRP)

Background: Retinitis pigmentosa (RP) is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide. Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss. Retinit...

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Bibliographic Details

Published in:	Advances in Ophthalmology Practice and Research
Main Authors:	Wei Wu, Ying Zhang, Jingjie Xu, Hua Jiang, Xiangjun Chen
Format:	Article
Language:	English
Published:	Elsevier 2025-02-01
Subjects:	Autosomal dominant retinitis pigmentosa RP1 gene Novel mutation Chinses pedigree In silico analysis
Online Access:	http://www.sciencedirect.com/science/article/pii/S2667376224000532