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

Articles > Article · 2014

Authors: 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

Molecular Genetics and Metabolism, International, WoS, 2014, vol 113, pp 267-273

DOI: 10.1016/j.ymgme.2014.09.014

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