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Table 4 Types of mutations detected

From: Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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