Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

doi:10.1093/hmg/ddq006

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Article

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Human molecular genetics - 1 Apr 2010

Sergeev Y V, Caruso R C, Meltzer M R, Smaoui N, MacDonald I M, Sieving P A

Abstract excerpt

Gene mutations that encode retinoschisin (RS1) cause X-linked retinoschisis (XLRS), a form of juvenile macular and retinal degeneration that affects males. RS1 is an adhesive protein which is proposed to preserve the structural and functional integrity of the retina, but there is very little evid...

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PMID: 20061330
DOI: 10.1093/hmg/ddq006
PMCID: PMC2838538

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20061330-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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