An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.

Antzeko izenburuak

• Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
  nork: Strautnieks, S, et al.
  Argitaratua: (1991)
• Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
  nork: Maddalena, A, et al.
  Argitaratua: (1988)
• New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
  nork: Nussbaum, R L, et al.
  Argitaratua: (1986)
• Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency
  nork: Liu, Jing, et al.
  Argitaratua: (2015)
• Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency
  nork: Li, Sitao, et al.
  Argitaratua: (2018)