Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families
- 1 March 1996
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 97 (3) , 274-276
- https://doi.org/10.1007/bf02185751
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severityHuman Genetics, 1995
- Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiencyAmerican Journal of Medical Genetics, 1995
- Mutations and polymorphisms in the human ornithine transcarbamylase gene: Mutation update addendumHuman Mutation, 1995
- 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
- A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiencyHuman Genetics, 1991
- Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutationsSomatic Cell and Molecular Genetics, 1990
- Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.Journal of Clinical Investigation, 1988
- Structure of the Human Ornithine Transcarbamylase Gene1The Journal of Biochemistry, 1988
- Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine TranscarbamylaseScience, 1984