Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Liyan Hu, Carmen Diez-Fernandez, Véronique Rüfenacht, Burcu Öztürk Hismi, Özlem Ünal, Erdogan Soyucen, Mahmut Çoker, Bilge Tanyeri Bayraktar, Mehmet Gunduz, Ertugrul Kiykim, Asburce Olgac, Jordi Pérez-Tur, Vicente Rubio, Johannes Häberle