Browsing by Subject "Ataxia telangiectasia"
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Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile (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 ...
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(2002)Background: In ataxia telangiectasia (A-T), the lack of a functional ATM kinase is associated with disturbances in the processing of DNA damage and a chronic oxidative stress. These disturbances may be responsible for an ...
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(2003)The present report deals with the functional relationships among protein complexes which, when mutated, are responsible for four human syndromes displaying cancer proneness, and whose cells are deficient in DNA double-strand ...