Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
Melissa DaouMirna SouaidTony YammineIssam KhneisserHicham MansourNabiha SalemAntony NemrJohnny AwwadAdib MoukarzelChantal FarraPublished in: Molecular genetics & genomic medicine (2023)
Two novel variants and five known variants were found in a total of ten unrelated Middle Eastern families.