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Volume 25 Issue 7, July 2017

Viewpoint

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Letter

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Article

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Short Report

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Book Review

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Clinical Utility Gene Card Update

  • Name of the disease (synonyms)

    Fabry disease, Anderson-Fabry disease.

    OMIM# of the disease

    301500.

    Name of the analysed gene(s) or DNA/chromosome segments

    Alpha-galactosidase A, GLA.

    OMIM# of the gene(s)

    300644.

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GLA gene in diagnostic, predictive and prenatal settings for Fabry disease and for risk assessment in patients’ relatives.

    • Andreas Gal
    • Michael Beck
    • Dominique P Germain
    Clinical Utility Gene Card Update
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Clinical Utility Gene Card

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