Article
Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy.
Thrombosis and haemostasis - 1 Apr 2012
Castaldo G, Cerbone A M, Guida A, Tandurella I, Ingino R, Tufano A, Ceglia C, Di Minno M N D, Ruocco A L, Di Minno G
Abstract excerpt
We sequenced the SERPINC1 gene in 26 patients (11 males) with antithrombin (AT) deficiency (22 type I, 4 type II), belonging to 18 unrelated families from Southern Italy. Heterozygous mutations were identified in 15/18 (83.3%) families. Of them, eight were novel mutations, each being identified in one family. Seven clearly cause impaired protein synthesis (four frameshift, one non-stop, one splicing and one 21bp...
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