Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

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Oppliger Leibundgut E, Liechti-Gallati S, Colombo JP, Wermuth B

Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

Hum Mutat. 1997;9(5):409-11.

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9143919 [ View in PubMed
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Polypeptides
NameUniProt ID
Ornithine carbamoyltransferase, mitochondrialP00480Details