Molecular genetics of citrullinemia types I and II.
Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia types I and II, have been identified, and numerous mutations in these genes have been reported. The clinical manifestations of citrullinemia are quite heterogeneous, and most studies have reported mutations in a small number of patients from a few families. Comprehensive integration of previous knowledge is important to understand the mutation spectrum and effect of the mutations on clinical manifestations. Therefore, we reviewed the English literature on mutations in the ASS and SLC25A13 genes, and their genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia types I and II.
['Woo|Hye In|HI|', 'Park|Hyung-Doo|HD|', 'Lee|Yong-Wha|YW|']
D000818:Animals D001124:Argininosuccinate Synthase D020159:Citrullinemia D005838:Genotype D006801:Humans D033681:Mitochondrial Membrane Transport Proteins D009154:Mutation
ASS1 SLC25A13 CTLN1 CTLN2 Genotype–phenotype