The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

  • J Invest Dermatol. 2016 Mar;136(3):719-721. doi: 10.1016/j.jid.2015.11.024.
Dharshini Sathishkumar  1 ,  Elizabeth Orrin  2 ,  Ana Terron-Kwiatkowski  3 ,  Fiona Browne  4 ,  Anna E Martinez  5 ,  Jemima E Mellerio  2 ,  Malobi Ogboli  6 ,  Susannah Hoey  7 ,  Linda Ozoemena  8 ,  Lu Liu  8 ,  David Baty  3 ,  John A McGrath  9 ,  Celia Moss  6
Affiliations
  • 1. Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK. Electronic address: [email protected].
  • 2. Department of Dermatology, Great Ormond Street Hospital for Children NHS FT, London, UK; St John's Institute of Dermatology, Guys and St Thomas' NHS FT, London, UK.
  • 3. East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK.
  • 4. St James Hospital, Dublin, Ireland.
  • 5. Department of Dermatology, Great Ormond Street Hospital for Children NHS FT, London, UK.
  • 6. Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK.
  • 7. Royal Belfast Hospital for Sick Children, Northern Ireland, UK.
  • 8. St John's Institute of Dermatology, Guys and St Thomas' NHS FT, London, UK.
  • 9. Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.
PMID: 26743602 DOI: 10.1016/j.jid.2015.11.024