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Article

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

European journal of human genetics : EJHG - 1 Apr 1999

Huopaniemi L, Rantala A, Forsius H, Somer M, de la Chapelle A, Alitalo T

Abstract excerpt

X-linked juvenile retinoschisis (RS) is a recessively inherited disorder causing progressive vitreoretinal degeneration in males. The gene defective in retinoschisis, XLRS1, has recently been identified and characterised. This gene consists of six exons encoding a protein with a putative role in cell-cell adhesion and phospholipid binding. Juvenile retinoschisis has been actively studied in Finland over the past...

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PMID: 10234514
DOI: 10.1038/sj.ejhg.5200300

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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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Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.PMID 10234514Read ↗

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Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.Semantic proximity Read ↗

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