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Table 1 Distribution of MEFV mutations

From: Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations

Homozygote

 

Compound heterozygotes

 

Heterozygote

 

Mutation

Number

Mutation

Number

Mutation

Number

M694I/M694I

2

E148Q/M694I

15

E148Q/wild-type

21

  

L110P/E148Q/M694I

14

M694I/wild-type

13

  

L110P/E148Q

13

R202Q/wild-type

8

  

L110P-E148Q/E148Q

6

E84K/wild-type

3

  

P369S/R408Q

4

S503C/wild-type

2

  

L110P/E148Q/P369S/R408Q

4

  
  

E84K/L110P/E148Q

2

  
  

M694I/S503C

1

  
  

E148Q/S503C

1

  
  

L110P-E148Q/L110P-E148Q

1

  
  

L110P/E148Q/G304R

1

  
  

E148Q/P369S/R408Q

1

  
  

E148Q/E148Q-P369S-R408Q

1

  
  

E148Q/R202Q/P369S/R408Q

1

  
  

G304R/P369S/R408Q

1

  
  

E148Q/R202Q

1

  

Total

2

 

67

 

47

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Arthritis Research & Therapy

ISSN: 1478-6362

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