Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 435
Gene Symbol: ASL
ASL
CUI: C0268547
Disease: Argininosuccinic Aciduria
Argininosuccinic Aciduria 		1.000 GermlineCausalMutation ORPHANET This study aimed at the completion of the structure and the sequence of the human ASL gene, the development of a genomic DNA-based system for mutation analysis and, finally, the characterisation of the molecular genetic background of ASL deficiency in 27 unrelated patients. 12384776

2002