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COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus.
Zhao, Xuliang; Sun, Weiwei; Cui, Zhihui; Yu, Min; Wang, Qi; Wang, Pengcheng; Tian, Ruixia.
Affiliation
  • Zhao X; Department of Clinical Laboratory, The No. 901 Hospital of the Joint Service of the People's Liberation Army, Hefei, China.
  • Sun W; Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
  • Cui Z; Beijing Chigene Translational Medicine Research Center, Beijing, China.
  • Yu M; Department of Obstetrics and Gynecology, The No. 901 Hospital of the Joint Service of the People's Liberation Army, Hefei, China.
  • Wang Q; Department of Obstetrics and Gynecology, The No. 901 Hospital of the Joint Service of the People's Liberation Army, Hefei, China.
  • Wang P; Department of Pathology, The First Affiliated Hospital of USTC, Division of Life Science and Medicine, University of Science and Technology of China, Hefei, China.
  • Tian R; Department of Clinical Laboratory, The No. 901 Hospital of the Joint Service of the People's Liberation Army, Hefei, China.
Mol Syndromol ; 13(6): 511-516, 2023 Jan.
Article in En | MEDLINE | ID: mdl-36660025

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Syndromol Year: 2023 Document type: Article Affiliation country: China Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Syndromol Year: 2023 Document type: Article Affiliation country: China Country of publication: Switzerland