Seven new mutations in the human ornithine transcarbamylase gene
- 1 January 1994
- journal article
- case report
- Published by Hindawi Limited in Human Mutation
- Vol. 4 (1) , 57-60
- https://doi.org/10.1002/humu.1380040109
Abstract
No abstract availableThis publication has 10 references indexed in Scilit:
- Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase geneHuman Molecular Genetics, 1993
- Four New Mutations in the Ornithine Transcarbamylase GeneBiochemical Medicine and Metabolic Biology, 1993
- For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent intronsHuman Genetics, 1993
- Mutations and polymorphisms in the human ornithine transcarbamylase geneHuman Mutation, 1993
- Six New Mutations in the Ornithine Transcarbamylase Gene Detected by Single-Strand Conformational PolymorphismPediatric Research, 1992
- Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase geneHuman Genetics, 1991
- A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiencyHuman Genetics, 1991
- Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiencyGenomics, 1990
- The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing.Proceedings of the National Academy of Sciences, 1989
- Nucleotide sequence of the ARG3 gene of the yeast Saccharomyces cerevisiae encoding ornithine carbamoyltransferase. Comparison with other carbamoyltransferasesEuropean Journal of Biochemistry, 1987