Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation

摘要

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error ofthe urea cycle. Although a combination of molecular methods have been usedincluding DNA sequencing of all 10 exons and exon-intron boundaries of OTC gene,only ~80% of patients w