A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

This publication has 11 references indexed in Scilit:

• Ornithine transcarbamylase deficiency: new sites with increased probability of mutation
  Human Genetics, 1995
• Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity
  Human Genetics, 1995
• The interaction between the first and last intron nucleotides in the second step of pre-mRNA splicing is independent of other conserved intron nucleotides
  Nucleic Acids Research, 1994
• Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency
  Human Mutation, 1994
• Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene
  Human Molecular Genetics, 1993
• Mutations and polymorphisms in the human ornithine transcarbamylase gene
  Human Mutation, 1993
• The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing.
  Proceedings of the National Academy of Sciences, 1989
• Protein differentiation: a comparison of aspartate transcarbamoylase and ornithine transcarbamoylase from Escherichia coli K-12.
  Proceedings of the National Academy of Sciences, 1984
• Crystal and molecular structures of native and CTP-liganded aspartate carbamoyltransferase from Escherichia coli
  Journal of Molecular Biology, 1982
• Ornithine trascarbamylase deficiencies in human males Kinetic and immunochemical classification
  Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1982