Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

John Y.W. Lee, Assem Farag, Amira Tawdy, Lu Liu, Magdalene Michael, Ellie Rashidghamat, Sophia Aristodemou, Chao Kai Hsu, Michael A. Simpson, Maddy Parsons, John A. McGrath

研究成果: Letter

3 引文 斯高帕斯(Scopus)
原文English
頁(從 - 到)198-201
頁數4
期刊Journal of Dermatological Science
89
發行號2
DOIs
出版狀態Published - 2018 二月

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

引用此

Lee, J. Y. W., Farag, A., Tawdy, A., Liu, L., Michael, M., Rashidghamat, E., Aristodemou, S., Hsu, C. K., Simpson, M. A., Parsons, M., & McGrath, J. A. (2018). Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. Journal of Dermatological Science, 89(2), 198-201. https://doi.org/10.1016/j.jdermsci.2017.11.012