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Article

Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.

Enzyme & protein - 1 Jan 2000

Shaheen N, Kobayashi K, Terazono H, Fukushige T, Horiuchi M, Saheki T

Abstract excerpt

Argininosuccinate synthetase (ASS) is a urea cycle enzyme with a tetrameric structure composed of identical subunits. Citrullinemia is an autosomal recessive disease caused by a deficiency of ASS. We have previously identified 20 mutations in ASS mRNA of human classical citrullinemia. However, it is difficult to evaluate the effects of each mutation on the enzyme structure and function, since most of the patients...

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Identifiers

PMID: 8792870
DOI: 10.1159/000474998

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.PMID 8792870Read ↗

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