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


Kose E., Unal Ö. , Bulbul S., Gunduz M., Haeberle J., Arslan N.

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

  • Publication Type: Article / Article
  • Volume: 50 Issue: 12
  • Publication Date: 2017
  • Doi Number: 10.1016/j.clinbiochem.2017.01.011
  • Title of Journal : CLINICAL BIOCHEMISTRY
  • Page Numbers: pp.686-689

Abstract

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.