Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1: c.505C T (p.Arg169*) mutation

著录项

• 来源
  《European journal of dermatology: EJD》 |2018年第3期|共3页
• 作者

  Vaz Sara O.; Damaso Catarina; Liu Lu; Ozoemena Linda; Mota-Vieira Luisa;

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• 作者单位

  Hosp Divino Espirito Santo Ponta Delgada EPER Paediat Dept Sao Miguel Isl Azores Portugal;

  Hosp Divino Espirito Santo Ponta Delgada EPER Paediat Dept Sao Miguel Isl Azores Portugal;

  St Thomas Hosp Natl Diagnost EB Lab London England;

  St Thomas Hosp Natl Diagnost EB Lab London England;

  Hosp Divino Espirito Santo Ponta Delgada EPER Mol Genet &

  Pathol Unit Sao Miguel Isl Azores;

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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