首页> American journal of human genetics> Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

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第一作者： Manuela,Pigors

第一单位： Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.

作者： Manuela,Pigors ^[1] ; Ofer,Sarig ^[2] ; Lisa,Heinz ^[3] ; Vincent,Plagnol ^[4] ; Judith,Fischer ^[3] ; Janan,Mohamad ^[2] ; Natalia,Malchin ^[2] ; Shefali,Rajpopat ^[1] ; Monia,Kharfi ^[5] ; Giles G,Lestringant ^[6] ; Eli,Sprecher ^[2] ; David P,Kelsell ^[7] ; Diana C,Blaydon ^[8]

作者单位： Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. ^[1] Department of Dermatology, Tel Aviv Sourasky Medical Center, 64239 Tel Aviv, Israel. ^[2] Institute of Human Genetics, University Medical Center Freiburg, 79106 Freiburg, Germany. ^[3] University College London Genetics Institute, London WC1E 6BT, UK. ^[4] Department of Dermatology, Charles Nicolle Hospital, 1006 Tunis, Tunisia. ^[5] Consultant Dermatologist (retired), British Ministry of Defence, London SW1A 2HB, UK. ^[6] Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address: d.p.kelsell@qmul.ac.uk. ^[7] Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address: d.blaydon@qmul.ac.uk. ^[8]