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IC were screened for mutations using multiplex ligation-dependent probe amplification and analysis of all von Willebrand factor gene (VWF) exons and exon\/intron boundaries. Selected missense mutations were expressed in vitro. Candidate VWF mutations were identified in 25 of 26 IC and included propeptide missense mutations in four IC (two resulting in type 1 and two in recessive 2A), all influencing VWF expression in vitro. Four missense mutations, a nonsense mutation and a small in-frame insertion resulting in type 2A were also identified. Of 15 type 3 VWD IC, 13 were homozygous and two compound heterozygous for 14 candidate mutations predicted to result in lack of expression and two propeptide missense changes. Identification of intronic breakpoints of an exon 17\u201318 deletion suggested that the mutation resulted from non-homologous end joining. This study provides further insight into the pathogenesis of VWD in a population with a high degree of consanguineous partnerships.<\/jats:p>","DOI":"10.1160\/th13-02-0135","type":"journal-article","created":{"date-parts":[[2013,5,24]],"date-time":"2013-05-24T10:43:20Z","timestamp":1369392200000},"page":"264-274","source":"Crossref","is-referenced-by-count":8,"title":["Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient 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