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Table 4 The distribution of severity of FMF according to genetic mutations and types (n:562)

From: Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

 

Homozygote mutations (n: 228; 40.5 %)

M694V

E148Q

M680I

R202Q

V726A

P369S

K695R

U726A

Mild

17

23

4

13

3

   

Moderate

27

14

12

14

1

   

Severe

70

12

10

6

2

   

Total

114

49

26

33

6

   
 

Heterozygote mutations (n: 252; 44.8 %)

M694V

E148Q

M680I

R202Q

V726A

P369S

K695R

U726A

Mild

41

10

6

3

1

9

7

3

Moderate

57

9

8

4

2

   

Severe

22

6

12

5

1

   

Total

120

25

26

12

4

9

7

3

 

Compound Heterozygote mutations (n: 82; 14.6 %)

M694V/E148Q

M694V/R202Q

M694V/M680I

E148Q/V726A

    

Mild

12

3

1

5

    

Moderate

15

2

2

3

    

Severe

5

7

9

     

Total

32

12

12

8