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Positional cloning of the gene associated with X-linked juvenile retinoschisis

Sauer, G. S. ; Gehrig, A. ; Warneke-Wittstock, R. ; Marquardt, A. ; Ewing, C. C. ; Gibson, A. ; Lorenz, B. ; Jurklies, B. ; Weber, Bernhard H. F.



Abstract

X−linked juvenile retinoschisis (RS) is a recessively inherited vitreo-retinal degeneration characterized by macular pathology and intraretinal splitting of the retina. The RS gene has been localized to Xp22.2 to an approximately 1 Mb interval between DXS418 and DXS999/DXS7161. Mapping and expression analysis of expressed sequence tags have identified a novel transcript, designated XLRS1, within ...

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