人类高精氨酸血症：一种未在皮肤成纤维细胞中表达的突变？
Human hyperargininemia: a mutation not expressed in skin fibroblasts?
作者信息
Van Elsen A F, Leroy J G
出版信息
Am J Hum Genet. 1977 Jul;29(4):350-5.
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.
摘要
三名高精氨酸血症患者的成纤维细胞中的精氨酸酶比活性与对照组相似。两种细胞类型的动力学特征、最适pH值、Mn++的作用、表观Km值以及DEAE-纤维素和CM-纤维素色谱同工酶均相同。成纤维细胞中具有功能的精氨酸酶基因可能与人类高精氨酸血症的病因无关。后一种突变可能仅影响红细胞的精氨酸酶。
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