title: A novel protein C inhibitor gene mutation in pediatric stroke patients after bone marrow transplantation.
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.
authors.affiliation: Biotechnology Institute, Ankara University, Ankara, Turkey. didemtorun@gmail.com
authors.forename: Didem
authors.initials: D
authors.lastname: Torun
authors.forename: Gülhis
authors.initials: G
authors.lastname: Deda
authors.forename: Mehmet
authors.initials: M
authors.lastname: Ertem
authors.forename: Zümrüt
authors.initials: Z
authors.lastname: Uysal
authors.forename: Erkan
authors.initials: E
authors.lastname: Yılmaz
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
mesh_terms: D001483:Base Sequence; D016026:Bone Marrow Transplantation; D017931:DNA Primers / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D019143:Evolution, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D018046:Protein C Inhibitor / Q000235:genetics*; D017422:Sequence Analysis, DNA; D020521:Stroke / Q000235:genetics*; D014421:Turkey
chemical_list: D017931:DNA Primers; D018046:Protein C Inhibitor; C534934:SERPINA5 protein, human