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Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene

Gehrig, A. E. ; Warneke-Wittstock, R. ; Sauer, C. G. ; Weber, Bernhard H. F.


X-linked juvenile retinoschisis (RS) is a vitreoretinal degeneration affecting only males. Recently, the RS1 gene underlying this common cause of early vision loss was identified and shown to encode a 224-amino acid precursor protein including a 23-residue leader sequence as well as a highly conserved discoidin motif at the C-terminus. Functional studies in other proteins with discoidin motifs ...


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