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Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole­exome sequencing.
Yang, Yanhui; Gao, Yangmin; Zhang, Mengna; Qian, Hua; Zhao, Ke; Wang, Weijuan; Ma, Yanxiu; Zhang, Dan; Li, Xiaoguang; Hu, Fengming; Sun, Xiaoming.
Affiliation
  • Yang Y; Key Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
  • Gao Y; Jiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China.
  • Zhang M; Key Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
  • Qian H; Jiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China.
  • Zhao K; Department of Laboratory Medicine, Chronic Disease Research Center, Medical College, Dalian University, Dalian, Liaoning 116622, P.R. China.
  • Wang W; Key Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
  • Ma Y; Key Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
  • Zhang D; Key Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
  • Li X; Key Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China.
  • Hu F; Jiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China.
  • Sun X; Department of Laboratory Medicine, Chronic Disease Research Center, Medical College, Dalian University, Dalian, Liaoning 116622, P.R. China.
Exp Ther Med ; 26(5): 502, 2023 Nov.
Article in En | MEDLINE | ID: mdl-37822584
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Exp Ther Med Year: 2023 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Exp Ther Med Year: 2023 Document type: Article Country of publication: