Browsing by Author "Navarrete Suárez, Carmen"

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    • Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile 
      Marcelain Cubillos, Katherine; Aracena A., Mariana; Be R., Cecilia; Navarrete Suárez, Carmen; Moreno H., Rosa; Santos A., Manuel; Pincheira Vega, Juana (SOC MEDICA SANTIAGO, 2004-02)
      The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness. The mutated gene that results in NBS codes for ...