The genomic architecture of the PROS1 gene underlying large tandem duplication mutation that causes thrombophilia from hereditary protein S deficiency
Keywords: IVS, intervening sequence; VTE, venous thromboembolic disorders; PS, protein S; CN, copy number; MLPA, multiplex ligation-dependent probe amplification; QGRS, quadruplex-forming G-rich sequences; LTR, long terminal repeat; ERV1, endogenous retroviral sequ