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Am J Hum Genet. 1989 Jul;45(1):123-7.

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

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Department of Biochemistry, Kumamoto University Medical School, Japan.


To define the molecular basis for the TaqI site alteration in the ornithine transcarbamylase (OTC) (E.C. gene of a female patient with mild OTC deficiency, we used a combination of genomic amplification followed by direct sequencing and oligodeoxyribonucleotide hybridization. We obtained evidence for a C-to-T substitution in exon 5 (codon 141) of this gene. This mutation generates a stop codon, in place of Arg, at amino acid 109 of the mature OTC protein. The mutation arose, de novo, in a germ cell of one of the parents.

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