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A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa.
Hou, Ping-Chen; Tu, Wei-Ting; Chen, Peng-Chieh; Guevara, Bryan Edgar K; Yen, Yu-Fen; Huang, Hsin-Yu; Lee, Julia Yu-Yun; Tang, Ming-Jer; Kuo, Pao-Lin; Mcgrath, John A; Hsu, Chao-Kai.
Afiliação
  • Hou PC; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan, School of Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Tu WT; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Chen PC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan, Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Guevara BEK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan, Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines.
  • Yen YF; Department of Dentistry, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Huang HY; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Lee JY; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Tang MJ; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan, Department of Physiology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Kuo PL; Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
  • Mcgrath JA; St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
  • Hsu CK; 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 University, Tainan, Taiwan, International Center for Wound Repair and Regeneration (iWRR),
Eur J Dermatol ; 31(2): 267-269, 2021 Apr 01.
Article em En | MEDLINE | ID: mdl-34001479
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Epidermólise Bolhosa Juncional / Colágenos não Fibrilares Tipo de estudo: Diagnostic_studies Limite: Adolescent / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Eur J Dermatol Assunto da revista: DERMATOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Taiwan
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Autoantígenos / Epidermólise Bolhosa Juncional / Colágenos não Fibrilares Tipo de estudo: Diagnostic_studies Limite: Adolescent / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Eur J Dermatol Assunto da revista: DERMATOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Taiwan