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    • Homozygous and compound heterozygous mutations at the Werner syndrome locus 

      Oshima, J.; Yu, C. E.; Piussan, C.; Klein, G.; Jabkowski, J.; Balci, S.; Miki, T.; Nakura, J.; Ogihara, T.; Ells, J.; Smith, Marilia de Arruda Cardoso [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; |Fraccaro, M.; Scappaticci, S.; Matthews, J.; Ouais, S.; Jarzebowicz, A.; Schellenberg, G. D.; Martin, G. M. (Oxford Univ Press United Kingdom, 1996-12-01)
      The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder, the Werner syndrome gene (WRN) has recently been identified as a member of the helicase family, Four distinct mutations were previously reported ...