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Title: A novel protein C inhibitor gene mutation in pediatric stroke patients after bone marrow transplantation
Authors: Torun, Didem
Deda, Gülhis
Ertem, Mehmet
Uysal, Zümrüt
Yılmaz, Erkan
Akar, Nejat
Keywords: Protein C inhibitor gene
Bone marrow transplantation
Issue Date: 2013
Publisher: Springer
Abstract: 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.
ISSN: 0301-4851
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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