A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

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Segues B, Veber PS, Rabier D, Calvas P, Saudubray JM, Gilbert-Dussardier B, Bonnefont JP, Munnich A

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

Hum Mutat. 1996;8(4):373-4.

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8956045 [ View in PubMed
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Polypeptides
NameUniProt ID
Ornithine carbamoyltransferase, mitochondrialP00480Details