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Table 1 Demographic characteristics and investigation results for the proband and her family

From: Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

ID

Gender

Age

Total cholesterol

LDL

tHcy

CBS

MTHFR

FVL

102

F

89

5.85

3.86

9.1

+ / -

+ / -

- / -

201

M

66

3.12

2.07

18.1

+ / -

- / -

- / -

202

F

67

6.11

4.04

19.3

+ / -

+ / -

+ / -

301 (Proband)

F

41

4.77

3.07

111

+ / +

- / -

+ / -

303

M

43

6.02

4.26

18.4

-

+ / -

- / -

401

M

13

3.14

1.75

11.4

-

+ / -

+ / -

412

F

12

4.72

3.31

8.4

-

- / -

- / -

410

F

6

5.16

3.57

8.1

-

- / -

- / -

  1. ID: number refers to Figure 2, LDL: low density lipoprotien cholesterol, tHcy: total homocysteine, CBS: cystathionine β-synthase gene mutation (p.I278T), MTHFR: methylenetetra-hydrofolate reductase C766T single nucleotide polymorphism, FVL: Factor V Leiden mutation.