A novel mutation in collagen transport protein, mia3 gene, detected in a patient with clinical symptoms of ehlers-danlos hypermobile syndrome

HIGHLIGHTS

• who: Junkiert-Czarnecka A from the Department of Clinical Genetics Nicolaus Copernicus University, Toruu0144, Poland have published the research: A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome, in the Journal: (JOURNAL) of October/25,/2022
• what: The aim of this study was the evaluation of the gene role in hEDS patients. The study showed that ECM proteins, especially collagen type I, III and V, as well as fibrillin, tenascin and fibronectin, were detected only in the cell cytoplasm of hEDS patients, while . . .
  

   

  

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