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Article

[Identification of mutation of the X-linked juvenile retinoschisis gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2001

Yu P, Li J, Li R, Zhang W

Abstract excerpt

OBJECTIVE: To elucidate the pathogeny of X-linked retinoschisis(XLRS) and evaluate its value in direct gene diagnosis. METHODS: Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) assay was performed to examine exons of XLRS1 gene in six unrelated retinoschisis cases (3 families and 3 sporadic cases), and fragments with a mobility shift were sequenced to identify the mutation. The deletion...

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Identifiers

PMID: 11295123

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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