Article
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
American journal of human genetics - 1 Dec 1992
Uchino T, Haraguchi Y, Aparicio J M, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I
Abstract excerpt
Argininemia is caused by a hereditary deficiency of liver-type arginase (E.C.3.5.3.1) and is characterized by psychomotor retardation and spastic tetraplegia. We examined findings in three Japanese patients with argininemia, by using the PCR, cloning, and sequencing procedures. We found three different mutations--G-to-A-365 in exon 4, G-to-C-703 in exon 7, and C-del-842 in exon 8--thereby leading to mutant...
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