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Article

R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Molecular vision - 12 Aug 2010

Xu Jun, Gu Hong, Ma Kai, Liu Xipu, Snellingen Torkel, Sun Erdan, Wang Ningli, Liu Ningpu

Abstract excerpt

PURPOSE: We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene. METHODS: Family history was collected and all family me...

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Identifiers

PMID: 20806044
PMCID: PMC2927431

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20806044-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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