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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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