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    Screening with the FMR1 protein test among mentally retarded males

    The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused ...

    B. B. A. de Vries, Serieta Mohkamsing, Ans M. W. van den Ouweland in Human Genetics (1998)

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    Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

    To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analys...

    R. Willemsen, Arie Smits, Serieta Mohkamsing, H. van Beerendonk in Human Genetics (1997)