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Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia

✍ Scribed by Joseph G. Vockley; David E. Tabor; Rita M. Kern; Barbara K. Goodman; Paul B. Wissmann; D. Soosang Kang; Wayne W. Grody; Stephen D. Cederbaum


Book ID
102260921
Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
423 KB
Volume
4
Category
Article
ISSN
1059-7794

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Argininemia is a rare autossomal recessive disorder caused by deficiency in the cytosolic liver-type arginase enzyme (L-arginine urea-hydrolase; E.C. 3.5.3.1). In order to investigate the molecular basis for argininemia in four unrelated Portuguese patients (two from northern Portugal and two from M