Article
A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects.
Thrombosis and haemostasis - 1 Oct 1996
Bernardi F, Legnani C, Micheletti F, Lunghi B, Ferraresi P, Palareti G, Biagi R, Marchetti G
Abstract excerpt
305 patients with juvenile thromboembolic episodes were screened for the presence of heparin cofactor II deficiency. The heterozygous deletion of two bases was found in the exon 5 of the heparin cofactor II gene in two unrelated patients, very likely due to a founder effect. This molecular lesion, causing a frameshift and elongated translation, affects the core of the molecule and should cause the complete...
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