Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.

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Calvas P, Segues B, Rozet JM, Rabier D, Bonnefond JP, Munnich A

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.

Hum Mutat. 1998;Suppl 1:S81-4.

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9452049 [ View in PubMed
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Polypeptides
NameUniProt ID
Ornithine carbamoyltransferase, mitochondrialP00480Details