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Table 1 LPL mutations and biochemical features of the 2 probands and their family members

From: A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis

Subject

Status

Genotype

Sex/age

BMI (kg/m2)

Plasma lipid levels (mmolL-1)

     

TC

TG

HDL-C

LDL-C

I2

Uncle

A98T/S447X

M/69

24.2

5.36

4.53

1.02

1.78

I3

Father

L279V

M/63

23.5

5.13

2.03

1.21

1.53

I4

Mother(proband1)

L279V/A98T

F/58

19.2

7.99

16.33

0.54

1.28

I5

Niece

A98T/S447X

F/69

21.6

5.07

5.77

1.12

1.67

I6

Niece

S447X

F/66

20.1

5.72

5.45

1.36

2.06

II2

Daughter(proband2)

L279V/A98T

F/28

19.6

38.4

79.0

0.61

2.48

II3

Daughter

A98T

F/32

19.8

5.32

5.13

1.25

1.82

  1. BMI, body mass index; TC, total cholesterol; TG, total triglyceride; HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol.