A novel gene mutation in a family with X-linked retinoschisis

To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene. Methods: A total of 15 participants in this XLRS family were analyzed. Complete ophthalmic examinations a...

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Bibliographic Details
Main Authors: Yu-Hung Lai, Shun-Ping Huang, Shee-Ping Chen, Pei-Shin Hu, Shu-Fung Lin, Min-Muh Sheu, Hwei-Zu Wang, Rong Kung Tsai
Format: Article
Language:English
Published: Elsevier 2015-09-01
Series:Journal of the Formosan Medical Association
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0929664614000060