title: Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion.
abstract: Molecular analysis of factor XIII A gene on three unrelated Turkish families identified two novel and one known mutations. One novel mutation is a substitution of cytidine by guanine at codon 541 in exon 12, beta barrel 1 domain of the coagulation factor XIII A subunit gene resulting in the conversion of asparagine to lysine. The mutation alters the restriction site of the enzyme MboII. The second novel mutation, a 4 bp (-CAAA) deletion located in a direct repetitive sequence (CAAACAAA) between codons 466-469, results in premature termination of translation at codon 474. The third mutation is a previously reported single nucleotide (cytidine) insertion at codon 400 in exon 9 of the factor XIII gene.
authors.affiliation: Department of Molecular Biology and Biotechnology, Faculty of Science, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
authors.forename: Esra
authors.initials: E
authors.lastname: Birben
authors.forename: Reyhan
authors.initials: R
authors.lastname: Oner
authors.forename: Cihan
authors.initials: C
authors.lastname: Oner
authors.forename: Fatma
authors.initials: F
authors.lastname: Gümrük
authors.forename: Ciğdem
authors.initials: C
authors.lastname: Altay
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gürgey
mesh_terms: D002648:Child; D002675:Child, Preschool; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: C064015:factor XIII subunit A; D005176:Factor XIII