Identification of three novel mutations in fourteen patients with citrullinemia type 1

Kose E., Unal O., Bulbul S., Gunduz M., Haeberle J., ARSLAN N.

CLINICAL BIOCHEMISTRY, vol.50, no.12, pp.686-689, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 12
  • Publication Date: 2017
  • Doi Number: 10.1016/j.clinbiochem.2017.01.011
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.686-689
  • Dokuz Eylül University Affiliated: Yes


Objectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1.