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Literature summary for 6.3.4.5 extracted from

  • Kim, I.S.; Ki, C.S.; Kim, J.W.; Lee, M.; Jin, D.K.; Lee, S.Y.
    Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis (2006), J. Biochem. Mol. Biol., 39, 400-405.
    View publication on PubMed

Application

Application Comment Organism
medicine a case of late-onset CTLN1 (citrullinemia) in a patient is described by biochemical analyses and ASS gene mutation confirmation. This is the first report of a Korean patient with late-onset CTLN1 confirmed by ASS gene mutation identification Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Synonyms

Synonyms Comment Organism
Argininosuccinate synthetase
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Homo sapiens