title: The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
authors.affiliation: Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK. Electronic address: dharshsathish@gmail.com.
authors.forename: Dharshini
authors.initials: D
authors.lastname: Sathishkumar
authors.affiliation: 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.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Orrin
authors.affiliation: East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK.
authors.forename: Ana
authors.initials: A
authors.lastname: Terron-Kwiatkowski
authors.affiliation: St James Hospital, Dublin, Ireland.
authors.forename: Fiona
authors.initials: F
authors.lastname: Browne
authors.affiliation: Department of Dermatology, Great Ormond Street Hospital for Children NHS FT, London, UK.
authors.forename: Anna E
authors.initials: AE
authors.lastname: Martinez
authors.affiliation: 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.
authors.forename: Jemima E
authors.initials: JE
authors.lastname: Mellerio
authors.affiliation: Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK.
authors.forename: Malobi
authors.initials: M
authors.lastname: Ogboli
authors.affiliation: Royal Belfast Hospital for Sick Children, Northern Ireland, UK.
authors.forename: Susannah
authors.initials: S
authors.lastname: Hoey
authors.affiliation: St John's Institute of Dermatology, Guys and St Thomas' NHS FT, London, UK.
authors.forename: Linda
authors.initials: L
authors.lastname: Ozoemena
authors.affiliation: St John's Institute of Dermatology, Guys and St Thomas' NHS FT, London, UK.
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.affiliation: East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK.
authors.forename: David
authors.initials: D
authors.lastname: Baty
authors.affiliation: Genetic Skin Disease Group, King's College London (Guy's Campus), London, UK.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Department of Dermatology, Birmingham Children's Hospital NHS FT, Birmingham, UK.
authors.forename: Celia
authors.initials: C
authors.lastname: Moss
mesh_terms: D002423:Cause of Death; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053547:Keratin-14 / Q000235:genetics*; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D011379:Prognosis; D012494:Sampling Studies; D015996:Survival Rate
chemical_list: C507540:KRT14 protein, human; C503940:KRT5 protein, human; D053547:Keratin-14; D053555:Keratin-5