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Literature summary for 6.3.4.5 extracted from

  • Larovere, L.E.; Angaroni, C.J.; Antonozzi, S.L.; Bezard, M.B.; Shimohama, M.; de Kremer, R.D.
    Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster (2009), Clin. Biochem., 42, 1166-1168.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
G1168A mutation results in citrullinemia type I Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P00966
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
Argininosuccinate synthetase
-
Homo sapiens

General Information

General Information Comment Organism
malfunction mutation results in citrullinemia type I Homo sapiens
physiological function involved in urea cycle Homo sapiens