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Article

[Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Nov 2005

Xi Xing-hua, Zheng Duo, Xia Kun, Pan Qian, Lei Lu-yun, Liu Zheng, Tang Chao-zhen, Xia Jia-hui, Jiang De-yong, Deng Han-xiang

Abstract excerpt

OBJECTIVE: To evaluate the disease-causing gene and phenotypic characters of a large family with autosomal dominant retinitis pigmentosa (adRP). METHODS: Disease status and associated ocular abnormalities of eight patients and six unaffected members who represent different generations of this family were assessed by measurement of visual psychophysics, full-field and multifocal electrophysiology (ERG and mfERG)...

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PMID: 16318756

Genes

ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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