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Zimmer, K.-., Matsuura, T., Colombo, J.-. et al. A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. J Inherit Metab Dis 18, 356–357 (1995). https://doi.org/10.1007/BF00710430
- Public Health
- Internal Medicine
- Point Mutation