Article
High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence.
Journal of thrombosis and haemostasis : JTH - 1 Jan 2016
von Krogh A S, Quist-Paulsen P, Waage A, Langseth Ø O, Thorstensen K, Brudevold R, Tjønnfjord G E, Largiadèr C R, Lämmle B, Kremer Hovinga J A
Abstract excerpt
UNLABELLED: Essentials The population prevalence of hereditary thrombotic thrombocytopenic purpura (TTP) is unknown. We studied the prevalence of hereditary TTP and population frequencies of two ADAMTS-13 mutations. A high frequency of hereditary TTP related to ADAMTS-13 mutation c.4143_4144dupA was found. Vicinity of ABO blood group and ADAMTS-13 loci may facilitate screening of ADAMTS-13 mutations. SUMMARY:...
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