Am J Hum Genet. 1977 Jul;29(4):350-5.

Human hyperargininemia: a mutation not expressed in skin fibroblasts?

Abstract

Arginase specific activity in the fibroblasts from three hyperargininemia patients is similar to that in controls. Kinetic features, pH-optimum, effect of Mn++, apparent Km values and DEAE- and CM-cellulose chromatography isozymes are identical in either cell type. The arginase gene functional in fibroblasts may be unrelated to the cause of hyperargininemia in humans. The latter mutation may solely affect the arginase of erythrocytes.

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Cited by 2 PubMed Central articles

Response to Cederbaum and Spector letter. [Am J Hum Genet. 1978]
Response to Cederbaum and Spector letter.
Van Elsen AF, Leroy JG. Am J Hum Genet. 1978 Jan; 30(1):91-2.
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Human hyperargininemia: a mutation not expressed in skin fibroblasts?

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