Four new mutations in the ornithine transcarbamylase gene.

Abstract excerpt

We characterized four new mutations in the ornithine transcarbamylase (OTC) gene in three male infants who died from acute neonatal hyperammonemia and one male infant with late onset disease. OTC enzymatic activity was undetectable in the livers of the three neonates, whereas residual enzymatic activity was present in the fourth patient. All 10 exons of the OTC gene were amplified by the polymerase chain reaction...

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