Research Article
Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?
Table 1
Frequency of different genotype in Familial Mediterranean Fever patients.
| | Genotype | Frequency (percent) |
| Heterozygote 17(40) | E148Q | 7(16) |
| | M694V | 5(12) |
| | M680I(G>C) | 2(5) |
| | P369S | 1(2) |
| | V726A | 1(2) |
| | M694I | 1(2) |
| Compound heterozygote 16(37) | M694V/R761H | 4(9) |
| | M694I/R761H | 2(5) |
| | M680I/E148Q | 2(5) |
| | M680I/M694V | 3(7) |
| | P369S/E148Q | 1(2) |
| | E148Q/M694I | 1(2) |
| | M694V/V726A | 1(2) |
| | M680I/R761H | 1(2) |
| | V726A/R761H | 1(2) |
| Homozygote 9(21) | M694V/M694V | 4(9) |
| | M680I/M680I | 3(7) |
| | V726A/V726A | 2(5) |
| Complex alleles mutations | P369S/ E148Q/ E148Q | 1(2) |
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