Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S by Michael Makris, Michael Leach,

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Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S by Michael Makris, Michael Leach, Nick J. Beauchamp, Martina E. Daly, Peter C. Cooper, Kingsley K. Hampton, Pauline Bayliss, Ian R. Peake, George J. Miller, and F. Eric Preston Blood Volume 95(6):1935-1941 March 15, 2000 ©2000 by American Society of Hematology

Inheritance of defective PROS1 allele in family D3 Inheritance of defective PROS1 allele in family D3.Individuals with PS deficiency are represented by half-filled symbols. Inheritance of defective PROS1 allele in family D3.Individuals with PS deficiency are represented by half-filled symbols. The index case is indicated by an arrow, and individuals who were not investigated are indicated by empty symbols. Haplotypes are shown in the following order: D3S1251, length of poly T tract in intron G, PIPS1, codon 626. Michael Makris et al. Blood 2000;95:1935-1941 ©2000 by American Society of Hematology

Total protein S levels in relatives with/withoutPROS1 gene defects Total protein S levels in relatives with/withoutPROS1 gene defects.Frequency distribution graph shows total protein S levels in relatives with (black bars) and without (white bars) PROS1gene defects. Total protein S levels in relatives with/withoutPROS1 gene defects.Frequency distribution graph shows total protein S levels in relatives with (black bars) and without (white bars) PROS1gene defects. Michael Makris et al. Blood 2000;95:1935-1941 ©2000 by American Society of Hematology

Free protein S levels in relatives with/withoutPROS1 gene defects Free protein S levels in relatives with/withoutPROS1 gene defects.Frequency distribution graph shows free protein S levels in relatives with (black bars) and without (white bars) PROS1 gene defects. Free protein S levels in relatives with/withoutPROS1 gene defects.Frequency distribution graph shows free protein S levels in relatives with (black bars) and without (white bars) PROS1 gene defects. Michael Makris et al. Blood 2000;95:1935-1941 ©2000 by American Society of Hematology

Thrombosis-free survival in relatives with/withoutPROS1 gene defects Thrombosis-free survival in relatives with/withoutPROS1 gene defects.Kaplan-Meier plot shows the thrombosis-free curves for relatives with (squares) and without (triangles) PROS1 gene defects. Thrombosis-free survival in relatives with/withoutPROS1 gene defects.Kaplan-Meier plot shows the thrombosis-free curves for relatives with (squares) and without (triangles) PROS1 gene defects. Michael Makris et al. Blood 2000;95:1935-1941 ©2000 by American Society of Hematology