Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
Trevisson
Eva
E
Genetica Clinica-Dipartimento di Pediatria-Università di Padova, Padova, Giustiniani, 3, 35128 Padova, Italy. eva.trevisson@unipd.it
Salviati
Leonardo
L
Baldoin
Maria Cristina
MC
Casarin
Alberto
A
Basso
Giuseppe
G
Burlina
Alberto
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D019943:Amino Acid Substitution; D001123:Argininosuccinate Lyase / Q000235:genetics*; D056807:Argininosuccinic Aciduria; D003062:Codon / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation
D003062:Codon; D001123:Argininosuccinate Lyase