PMC4715088_01
Axial and coronal images of CT angiography. CT angiography shows a total occlusion of the right popliteal artery (arrow).
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PMC4715088_01_gr1.jpg
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In August 2009, the patient presented with painful swelling in his right leg, and through evaluation with computed tomography, right popliteal artery thrombosis was diagnosed (Fig. 1).
PMC4715088_02
Pedigree of the family under investigation. Squares and circles indicate males and females, respectively, and the squares and circles that are crossed through indicate deceased family members. The arrow denotes the proposita. Black symbols indicate individuals who are affected by PROS1 gene mutation (c.1417A>T, p.K473X), and gray symbols indicate those whose affection status is unknown.
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PMC4715088_03_gr2.jpg
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A total of 28 members from 4 generations were examined (Fig. 2). TAG (stop codon) at codon 473 by substitution of A to T at 1417 site (c.1417A>T, p.K473X) was detected (Fig. 3). The same mutation was found in three family members, including the patient's second eldest brother, father, and 28-year-old daughter, who had no clinical history of thrombosis (Fig. 2).
PMC4715088_03
Pedigree of the family under investigation. Squares and circles indicate males and females, respectively, and the squares and circles that are crossed through indicate deceased family members. The arrow denotes the proposita. Black symbols indicate individuals who are affected by PROS1 gene mutation (c.1417A>T, p.K473X), and gray symbols indicate those whose affection status is unknown.
gr2.jpg
PMC4715088_03_gr2.jpg
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A total of 28 members from 4 generations were examined (Fig. 2). TAG (stop codon) at codon 473 by substitution of A to T at 1417 site (c.1417A>T, p.K473X) was detected (Fig. 3). The same mutation was found in three family members, including the patient's second eldest brother, father, and 28-year-old daughter, who had no clinical history of thrombosis (Fig. 2).
DNA sequence analysis. DNA sequence analysis of PROS1 exon 10 for the patient reveals a novel nonsense mutation.
gr3.jpg
PMC4715088_03_gr3.jpg
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TAG (stop codon) at codon 473 by substitution of A to T at 1417 site (c.1417A>T, p.K473X) was detected (Fig. 3). The same mutation was found in three family members, including the patient's second eldest brother, father, and 28-year-old daughter, who had no clinical history of thrombosis (Fig. 2).