Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency
- 1 January 1994
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 3 (4) , 402-406
- https://doi.org/10.1002/humu.1380030415
Abstract
Click on the article title to read more.Keywords
This publication has 26 references indexed in Scilit:
- Specificity of PCR‐SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiencyJournal of Inherited Metabolic Disease, 1993
- 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
- Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.Proceedings of the National Academy of Sciences, 1989
- Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1988
- Nucleotide sequence of the ARG3 gene of the yeast Saccharomyces cerevisiae encoding ornithine carbamoyltransferase. Comparison with other carbamoyltransferasesEuropean Journal of Biochemistry, 1987
- Isolation and Characterization of the Human Ornithinc Transcarbamylase Gene: Structure of the 5′-End Region1The Journal of Biochemistry, 1986
- A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sitesNucleic Acids Research, 1985
- X‐CHROMOSOME INACTIVATION AND DEVELOPMENTAL PATTERNS IN MAMMALSBiological Reviews, 1972