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Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity
Author(s) -
Staudt M.,
Wermuth B.,
Freisinger P.,
Hässler A.,
Pontz B. F.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005315531630
Subject(s) - ornithine carbamoyltransferase , citation , point mutation , mutation , point (geometry) , genetics , computer science , library science , biology , ornithine , mathematics , geometry , amino acid , arginine , gene

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