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Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity
1998
M. Staudt
B. Wermuth
Peter Freisinger
A. Hassler
B.F. Pontz
Keywords:
Diabetes mellitus
Biology
Enzyme
Internal medicine
Endocrinology
Ornithine
Ornithine Carbamoyltransferase
In vitro
Point mutation
Correction
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