Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.

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Nishiyori A, Yoshino M, Tananari Y, Matsuura T, Hoshide R, Mastuda I, Mori M, Kato H

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.

Hum Mutat. 1998;Suppl 1:S131-3.

PubMed ID
9452065 [ View in PubMed
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Polypeptides
NameUniProt ID
Ornithine carbamoyltransferase, mitochondrialP00480Details