Ornithine transcarbamylase deficiency: new sites with increased probability of mutation

This publication has 20 references indexed in Scilit:

• Four New Mutations in the Ornithine Transcarbamylase Gene
  Biochemical Medicine and Metabolic Biology, 1993
• Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational Polymorphism
  Pediatric Research, 1992
• Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency
  Biochemical Medicine and Metabolic Biology, 1992
• Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
  Journal of Medical Genetics, 1991
• A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency
  Human Genetics, 1991
• Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency
  Genomics, 1990
• Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency
  The Journal of Pediatrics, 1989
• Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
  Journal of Clinical Investigation, 1988
• Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase
  Science, 1984
• Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
  Cell, 1984