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Article

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

Human genetics - 1 Aug 1998

Hotta Y, Fujiki K, Hayakawa M, Ohta T, Fujimaki T, Tamaki K, Yokoyama T, Kanai A, Hirakata A, Hida T, Nishina S, Azuma N

Abstract excerpt

We investigated the XLRS1 gene in Japanese patients with retinoschisis (RS). All exons of the XLRS1 gene were sequenced in 14 males, including a pair of monozygotic twins, from 11 individual families with RS and five of their mothers who are asymptomatic but diagnosed as carriers. Six kinds of mi...

Topics

Eye Diseases, Hereditary
Eye Proteins
Female
Humans
Japan
Male
Mutation
Pedigree
Retinal Degeneration

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9760195
DOI: 10.1007/pl00008705

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9760195-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.PMID 9760195Read ↗

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Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.Semantic proximity Read ↗

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.Semantic proximity Read ↗

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