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

Hu L., Diez-Fernandez C., Rüfenacht V., Hismi B., Ünal Ö., Soyucen E., ...Daha Fazla

Molecular Genetics and Metabolism, cilt.113, sa.4, ss.267-273, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 113 Sayı: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.ymgme.2014.09.014
  • Dergi Adı: Molecular Genetics and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.267-273
  • Anahtar Kelimeler: Urea cycle disorder, Carbamoyl phosphate synthetase 1 (CPS1) deficiency, Founder mutation, Baculovirus/insect cell expression system, Enzyme activity, Thermostability, RAT-LIVER, MOLECULAR DEFECTS, GENETIC FINDINGS, I DEFICIENCY, PROTEIN, SYNTHASE, ACETYLGLUTAMATE, IDENTIFICATION, REACTIVITY, MECHANISM
  • Marmara Üniversitesi Adresli: Hayır