Table 4. Genotypes and characteristics of 12 patients .
|
Patients ID |
Location | Genotypes | Classification | HPA Type | Ethnicity | Pre-treatment Phe levels (mg/dl) |
| 5 | Exon 11 | L385L/U | Heterozygote | Classic | Azeri | 21.5 |
| 6 | Exon 7 |
V245V/U E280K/U |
Heterozygote | Mild HPA | Persian | 18.4 |
| 7 | Exon 7 | R261Q/ U | Heterozygote | Mild HPA |
Persian |
16.7 |
| 7 | Exon 6 | Q232Q/ U | Heterozygote | |||
| 8 | Exon 7 | V245V/U | Heterozygote | Mild HPA | Kurdish | 14 |
| 9 | Exon 6 | Q232Q/ Q232Q | Homozygote | Mild HPA | Persian | 15 |
| 11 | Exon 7 | P281L/ P281L | Homozygote | Classic | Persian | 25 |
| 12 | Exon 7 |
R241C/U V245V/U |
Heterozygote | Classic | Azeri | 21.1 |
| 14 | Exon 7 | R261Q/U | Heterozygote | Classic | Persian | 24 |
| 15 | Exon 6 | Q232Q/ Q232Q | Homozygote | Classic | Persian | 26 |
| R261X/R261X | Homozygote | |||||
| 16 | Exon 6 | Q232Q/ Q232Q | Homozygote | Classic | Azeri | 25 |
| 18 | Exon 11 | V399V/U | Heterozygote | Classic | Persian | 28.8 |
| Exon 7 | V245V | Homozygote | ||||
| 19 | Exon 7 |
R243X/ R243X V245V/ V245V |
Homozygote | Classic | Azeri | 22.9 |
| 22 |
Exon 11 Intron 11 |
L385L/U IVS11+1G>C/U |
Heterozygote | Classic | Persian | 23.4 |
| 25 | Exon 7 | R261Q | Homozygote | Classic | Azeri | 25.5 |