Table 4 Types of mutations detected
Total number of patients with mutations | 100 |
|---|---|
Number of patients with homozygous mutations | 67 |
Total number of mutations | 58 |
Total number of novel mutations | 24 |
Missense mutations | 39 |
Premature termination codon | 10 |
Initiation codon mutation | 1 |
Splice site mutation | 2 |
Small insertions/ deletions | 5 |
Large deletion | 1 |