A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis.

Kisla E., Balci S., Bisgin A., Altintas D. U., Yilmaz M.

European journal of medical genetics, vol.60, pp.690-694, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 60
  • Publication Date: 2017
  • Doi Number: 10.1016/j.ejmg.2017.09.004
  • Journal Name: European journal of medical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.690-694
  • Keywords: TREX1, Cerebral vasculitis, Chilblain, Autoinflammatory diseases, AICARDI-GOUTIERES-SYNDROME, LUPUS-ERYTHEMATOSUS, EXONUCLEASE 1, EXPERIENCE, DISORDERS, CRITERIA, CHILDREN, GENE, CNS
  • Çukurova University Affiliated: Yes