Article
'Late onset' ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes.
Human molecular genetics - 1 Jun 1997
Morizono H, Listrom C D, Rajagopal B S, Aoyagi M, McCann M T, Allewell N M, Tuchman M
Abstract excerpt
Although many mutations in the ornithine transcarbamylase gene have been correlated with 'late onset' of hyperammonemia in patients, the effects of these mutations on enzyme function are largely unknown. Three recurrent mutations (R40H, R277W and R277Q) found in patients with 'late onset' disease were incorporated into 'mature' human ornithine transcarbamylase cDNA and overexpressed in Escherichia coli. The three...
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