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The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
Sathishkumar, Dharshini; Orrin, Elizabeth; Terron-Kwiatkowski, Ana; Browne, Fiona; Martinez, Anna E; Mellerio, Jemima E; Ogboli, Malobi; Hoey, Susannah; Ozoemena, Linda; Liu, Lu; Baty, David; McGrath, John A; Moss, Celia.
Afiliación
  • Sathishkumar D; Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK. Electronic address: dharshsathish@gmail.com.
  • Orrin E; 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.
  • Terron-Kwiatkowski A; East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK.
  • Browne F; St James Hospital, Dublin, Ireland.
  • Martinez AE; Department of Dermatology, Great Ormond Street Hospital for Children NHS FT, London, UK.
  • Mellerio JE; 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.
  • Ogboli M; Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK.
  • Hoey S; Royal Belfast Hospital for Sick Children, Northern Ireland, UK.
  • Ozoemena L; St John's Institute of Dermatology, Guys and St Thomas' NHS FT, London, UK.
  • Liu L; St John's Institute of Dermatology, Guys and St Thomas' NHS FT, London, UK.
  • Baty D; East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK.
  • McGrath JA; Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.
  • Moss C; Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK.
J Invest Dermatol ; 136(3): 719-721, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26743602
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Simple / Mutación Missense / Queratina-14 / Queratina-5 Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Invest Dermatol Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Simple / Mutación Missense / Queratina-14 / Queratina-5 Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Invest Dermatol Año: 2016 Tipo del documento: Article