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Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
Wang, Tian; Tang, Zhuangli; Xiao, Tong; Ren, Junru; He, Shuyao; Liu, Yan; Xiao, Shengxiang; Wang, Xiaopeng.
Afiliación
  • Wang T; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China.
  • Tang Z; Department of Dermatology, The Second Affiliated Hospital of Zhejiang University, Hangzhou, China.
  • Xiao T; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China.
  • Ren J; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China.
  • He S; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China.
  • Liu Y; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China.
  • Xiao S; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China. xiao_sx@163.com.
  • Wang X; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China. wxpdoctor@mail.xjtu.edu.cn.
BMC Med Genomics ; 16(1): 152, 2023 07 01.
Article en En | MEDLINE | ID: mdl-37393290
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Texto completo: 1 Colección: 01-internacional Asunto principal: Activador de Plasminógeno de Tipo Uroquinasa / Antígenos Ly / Queratodermia Palmoplantar / Pueblos del Este de Asia Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: China
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Texto completo: 1 Colección: 01-internacional Asunto principal: Activador de Plasminógeno de Tipo Uroquinasa / Antígenos Ly / Queratodermia Palmoplantar / Pueblos del Este de Asia Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: China