Browsing Centre for Clinical Pharmacology by Author "Fairley, C"

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    • Pathogenic <i>SPTBN1</i> variants cause an autosomal dominant neurodevelopmental syndrome 

      Cousin, MA; Creighton, BA; Breau, KA; Spillmann, RC; Torti, E; Dontu, S; Tripathi, S; Ajit, D; Edwards, RJ; Afriyie, S (Nature Research, 2021-07-01)
      SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, ...