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Article

X-linked retinoschisis: an update.

Journal of medical genetics - 1 Apr 2007

Sikkink Stephen K, Biswas Susmito, Parry Neil R A, Stanga Paulo E, Trump Dorothy

Abstract excerpt

X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secretory retinal protein, retinoschisin. Retinoschisin octamerisation is implicated in cell-cell...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17172462
DOI: 10.1136/jmg.2006.047340
PMCID: PMC2598044

Provenance

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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