Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.

Ornithine Transcarbamylase Deficiency, an X-linked disorder, is the most common cause of inherited urea cycle disorders. Approx. 90 mutations that produce reduced levels of ornithine transcarbamylase (OTCase) activity have been identified in patients [Tuchman (1993) Hum. Mutat. 2, 174-178; Tuchman a...

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Hlavní autoři: Morizono, H, Tuchman, M, Rajagopal, B S, McCann, M T, Listrom, C D, Yuan, X, Venugopal, D, Barany, G, Allewell, N M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1997
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1218235/
https://ncbi.nlm.nih.gov/pubmed/9065786
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