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Showing 1 to 1 of 1 for “"beta-III spectrin"”.

  1. Elucidating the reversibility of ataxia

    Šuminaite, DaumanteThe University of Edinburgh2017

    … mutations in the SPTBN2 gene, encoding b-III spectrin, are implicated in spinocerebellar ataxia type 5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type 1 (SPARCA1), respectively. Our mouse model, lacking b-III spectrin (KO), mimics the progressive human phenotype …

    edinburgh Repository record