Research Article
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
Table 2
Distribution of Iraqi CAH cases with 21-hydroxylase enzyme deficiency with large deletions/conversions of CYP21A2 gene.
| Types of deletions/conversions | Number (%) |
| P30L, I2Splice, Del 8 bp | 3 (4.8) | P30L, I2Splice, Del 8 bp, I172N | 2 (3.2) | Cluster E6, V281L, L307 frameshift, Q318X, R356W | 5 (8.1) | Complete CYP21A2 gene deletion | 2 (3.2) |
| Total | 12 (19.3) |
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