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Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients

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Birben E, Öner C, Öner R, Altay Ç, Gürgey A. Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients.

Eur J Haematol 2003: 71: 39–43. © Blackwell Munksgaard 2003. Abstract:

We report two novel mutations in factor XIIIA (FXIIIA) gene that caused congenital factor XIII deficiency in two unrelated patients. The first alteration, a missense mutation Leu235Arg in exon 6 of FXIIIA gene, is located in the putative calcium-binding part of the core domain of the enzyme. Replacement of non-polar hydrophobic leucine residue with positively charged arginine residue is likely to effect protein folding thus destabilizing the molecule. The second mutation is a 3-bp deletion in exon 14 of FXIIIA gene. This deletion is located in beta barrel 2 domain of the protein and results in translation of an aberrant FXIIIA molecule that lacks lysine residue either at positions 677 or 678. As this inframe deletion is located in a direct repetetive sequence of AAGAAG, that codes for two lysine residues, the exact location of deletion could not be detected.
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Keywords: coagulation; deletion; factor XIII deficiency; factor XIIIA gene; missense mutation

Document Type: Research Article

Affiliations: 1: Department of Molecular Biology and Biotechnology, Faculty of Science, Hacettepe University and 2: Department of Pediatric Hematology, Faculty of Medicine, İhsan Dogˇramacı Children's Hospital, Hacettepe University, Ankara, Turkey

Publication date: July 1, 2003

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