Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.

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Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K, et al.

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.

Hum Mutat. 1994;3(4):402-6.

PubMed ID
8081398 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Ornithine carbamoyltransferase, mitochondrialP00480Details