PMC:1440874 / 38932-40145 JSONTXT

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Some full-length ATRX protein is detected in cases predicted to have truncating mutations (RJG, unpublished data), and residual ATPase activity in ATRX immunoprecipitates can be detected in Epstein-Barr virus-transformed lymphocytes of all human patients analysed to date (A. Argentaro and M. Mitson, unpublished data). The failure to observe a truly null ATRX allele among human patients strongly suggests that, as in the mouse, the complete absence of ATRX protein is incompatible with human fetal 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