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Facto xiii

Peyman Eshghi, Nader Cohan, Manigeh Lak, Majid Naderi, Flora Peyvandi, Marzia Menegatti, Mehran Karimi
The aim of this study was to review the literature for the genetic mutations causing inherited factoe XIII (FXIII) deficiency in patients from Iran, where the consanguineous marriage is common. Data were collected from 30 patients (18 males and 12 females) with FXIII deficiency, from 26 unrelated families. Data of mutation analysis were obtained from 2 previously published studies. A total of 7 mutations consisting of 5 new mutations and 2 previously reported mutations were identified. Of the 5 novel missense mutations, 2, Arg77His and Trp187Arg, were the most common in Iranian FXIII-deficient patients...
January 2012: Clinical and Applied Thrombosis/hemostasis
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