Case report antithrombin deficiency is associated with a novel homozygous detrimental mutation in serpinc1 gene in a saudi female

HIGHLIGHTS

  • who: Sana Alqarni and collaborators from the Department of Clinical Laboratory Science, College of Applied Medical Science, King Saud University, Riyadh, Saudi Arabia have published the paper: Case Report Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female, in the Journal: Case Reports in Medicine 173833039 of 20/04/2023
  • what: The authors report a 7-year-old child with a novel homozygous detrimental mutation in SERPINC1 who presented at the age of 4 years with severe cerebral sinus venous thrombosis. Tus, the purpose of this report . . .

     

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