Demographic, clinical, analytical and genetic features of patients with antithrombin deficiency and mutations affecting potential regulatory sequences in <i>SERPINC1</i>.

<p>Demographic, clinical, analytical and genetic features of patients with antithrombin deficiency and mutations affecting potential regulatory sequences in <i>SERPINC1</i>.</p

Localization in <i>SERPINC1</i> gene of potential vitamin D response elements (VDRE) identified by using <i>in silico</i> predictions with JASPAR software.

<p>The localization in <i>SERPINC1</i> of the genetic variations evaluated in this study is shown. The predictive score of interaction with RXRα/VDR of wild type and mutated sequences obtained by using JASPAR software are also indicated.</p