Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

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• Finished

  Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)

  Barton, G. (Investigator), Campbell, P. (Investigator), Hickerson, R. (Investigator), Leigh, I. (Investigator), McLean, I. (Investigator) & Wyatt, P. (Investigator)

  1/08/12 → 30/04/19

  Project: Research

  • Atopic Dermatitis 100%
  • Palmoplantar Keratoderma 38%
  • Gain-of-function mutation 33%
  • Filaggrin 32%
  • Disease 29%