Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

著录项

• 来源
  《Journal of dermatological science》 |2018年第2期|共4页
• 作者

  John Y.W. Lee; Assem Farag; Amira Tawdy; Lu Liu; Magdalene Michael; Ellie Rashidghamat; Sophia Aristodemou; Chao-Kai Hsu; Michael A. Simpson; Maddy Parsons; John A. McGrath;

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• 作者单位

  St John’s Institute of Dermatology King’s College London;

  Dermatology Department Faculty of Medicine Cairo University;

  Dermatology Department Faculty of Medicine Cairo University;

  National Diagnostic EB Laboratory;

  Randall Division of Cell and Molecular Biophysics King’s College London (Guy’s Campus);

  St John’s Institute of Dermatology King’s College London;

  Dermatology Department Faculty of Medicine Cairo University;

  St John’s Institute of Dermatology King’s College London;

  Division of Genetics and Molecular Medicine King’s College London;

  Randall Division of Cell and Molecular Biophysics King’s College London (Guy’s Campus);

  St John’s Institute of Dermatology King’s College London;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 皮肤病学与性病学;
• 关键词