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Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.
Lee, John Y W; Farag, Assem; Tawdy, Amira; Liu, Lu; Michael, Magdalene; Rashidghamat, Ellie; Aristodemou, Sophia; Hsu, Chao-Kai; Simpson, Michael A; Parsons, Maddy; McGrath, John A.
Affiliation
  • Lee JYW; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
  • Farag A; Dermatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Tawdy A; Dermatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Liu L; National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, UK.
  • Michael M; Randall Division of Cell and Molecular Biophysics, King's College London (Guy's Campus), London, UK.
  • Rashidghamat E; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
  • Aristodemou S; Dermatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Hsu CK; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Institute of Clinical Medicine, College of Medicine, National Cheng Kung Uni
  • Simpson MA; Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK.
  • Parsons M; Randall Division of Cell and Molecular Biophysics, King's College London (Guy's Campus), London, UK.
  • McGrath JA; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address: john.mcgrath@kcl.ac.uk.
J Dermatol Sci ; 89(2): 198-201, 2018 Feb.
Article in En | MEDLINE | ID: mdl-29229434
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Keratoderma, Palmoplantar / Desmoglein 1 Limits: Adult / Female / Humans Language: En Journal: J Dermatol Sci Journal subject: DERMATOLOGIA Year: 2018 Document type: Article Affiliation country: Reino Unido Country of publication: Países Bajos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Keratoderma, Palmoplantar / Desmoglein 1 Limits: Adult / Female / Humans Language: En Journal: J Dermatol Sci Journal subject: DERMATOLOGIA Year: 2018 Document type: Article Affiliation country: Reino Unido Country of publication: Países Bajos