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Article

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

Japanese journal of ophthalmology - 1 Jan 2000

Ma Xiang, Li Xiaoxin, Wang Lihua

Abstract excerpt

PURPOSE: To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS). METHODS: Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct...

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PMID: 18369700
DOI: 10.1007/s10384-007-0488-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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