A novel protein C inhibitor gene mutation in pediatric stroke patients after bone marrow transplantation

Torun D., Deda G., ERTEM M., Uysal Z., YILMAZ E., Akar N.

MOLECULAR BIOLOGY REPORTS, cilt.40, sa.9, ss.5465-5468, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Sayı: 9
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1007/s11033-013-2644-x
  • Dergi Adı: MOLECULAR BIOLOGY REPORTS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.5465-5468
  • Anahtar Kelimeler: Protein C inhibitor gene, Bone marrow transplantation, Mutation, PLASMINOGEN-ACTIVATOR INHIBITOR-3, FACTOR-V, CEREBRAL INFARCT, G-A, PCI
  • Ankara Üniversitesi Adresli: Evet

Özet

Protein C inhibitor is a heparin dependent serine protease inhibitor found in human plasma, urine and other body fluids. It was originally identified as an inhibitor of activated protein C. Stroke is an important cause of morbidity and mortality in the pediatric age group. In this study we analyzed the protein C inhibitor gene mutations in Turkish pediatric stroke patients. We found a missense mutation of G to A at nucleotide 6760 in exon 2, resulting in a transition serine to asparagine (p.Ser188Asp) and in a child and his father and also we found same alteration in exon 2 in an another pediatric stroke case following bone marrow transplantation.