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

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

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
Figures