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, cilt.50, sa.12, ss.686-689, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Konu: 12
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.clinbiochem.2017.01.011
  • Dergi Adı: CLINICAL BIOCHEMISTRY
  • Sayfa Sayıları: ss.686-689

Özet

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.