A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

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Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

J Inherit Metab Dis. 1995;18(3):356-7.

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7474905 [ View in PubMed
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Polypeptides
NameUniProt ID
Ornithine carbamoyltransferase, mitochondrialP00480Details