Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic probands with presumptive retinitis pigmentosa

Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic probands with presumptive retinitis pigmentosa

Abstract. Retinitis pigmentosa (RP), a major cause of inherited blindness worldwide, is highly heterogeneous. This study aimed to identify mutations in a Chinese cohort of sporadic probands with presumptive RP. Whole exome sequencing represents a considerable advancement in the identification of mut...

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Bibliographic Details
Main Authors: Lulin Huang, Jialiang Yang, Shiyao Xu, Yao Mao, Dean Yao Lee, Jiyun Yang, Chao Qu, Yang Li, Zhenglin Yang
Format: Article
Language:English
Published: Wolters Kluwer Health 2018-12-01
Series:Journal of Bio-X Research
Online Access:http://journals.lww.com/10.1097/JBR.0000000000000021

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