Article
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
The Journal of clinical investigation - 1 Jul 1990
Haraguchi Y, Aparicio J M, Takiguchi M, Akaboshi I, Yoshino M, Mori M, Matsuda I
Abstract excerpt
Argininemia results from a deficiency of arginase (EC 3.5.3.1), the last enzyme of the urea cycle in the liver. We examined the molecular basis for argininemia by constructing a genomic library followed by cloning and DNA sequencing. Discrete mutations were found on two alleles from the patient, a product of a nonconsanguineous marriage. There was a four-base deletion at protein-coding region 262-265 or 263-266...
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