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. Retinitis Pi...

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ग्रंथसूची विवरण

मुख्य लेखकों:	Wei Wu, Ying Zhang, Jingjie Xu, Hua Jiang, Xiangjun Chen
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Elsevier 2025-02-01
श्रृंखला:	Advances in Ophthalmology Practice and Research
विषय:	Autosomal dominant retinitis pigmentosa RP1 gene Novel mutation Chinses pedigree In silico analysis
ऑनलाइन पहुंच:	http://www.sciencedirect.com/science/article/pii/S2667376224000532
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