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

doi:10.1016/j.jfma.2014.01.001

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Article

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

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Sept 2015

Lai Yu-Hung, Huang Shun-Ping, Chen Shee-Ping, Hu Pei-Shin, Lin Shu-Fung, Sheu Min-Muh, Wang Hwei-Zu, Tsai Rong Kung

Abstract excerpt

BACKGROUND/PURPOSE: 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 and fundus photography were performed on 15 family members. These tests identified five affected...

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PMID: 24529551
DOI: 10.1016/j.jfma.2014.01.001

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