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

  title={Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene},
  author={Andrea E. Gehrig and Regina Warneke-Wittstock and Christian G. Sauer and Bernhard H F Weber},
  journal={Mammalian Genome},
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 have implicated this domain in phospholipid binding and cell-cell interactions on membrane surfaces… CONTINUE READING
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