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[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 1 Dec 2013

Chen Xue, Gao Xiang, Zhao Kan-xing, Pan Xin-yuan, Zhang Xiu-mei, Wang Xiu-ying, Yuan Song-tao, Liu Qing-huai, Zhao Chen

Abstract excerpt

OBJECTIVE: To identify the pathogenic mutation in a four-generation Chinese family with autosomal dominant retinitis pigmentosa (ADRP) and to analyze its associated clinical phenotypes. METHODS: Twelve participants from the index family were recruited, including 5 patients, 6 asymptomatic siblings, and one spouse. All participants underwent ophthalmic examinations, including best-corrected visual acuity (BCVA),...

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PMID: 24499697

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ERG

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