Article
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
Journal of medical genetics - 1 Jul 1992
Feldmann D, Rozet J M, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux J P, Munnich A
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. In order to improve the efficiency of our screening for mutant genotypes, we f...
Topics
- Amino Acid Metabolism, Inborn Errors
- Ammonia
- Base Sequence
- Binding Sites
- Female
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Neonatal Screening
- Oligodeoxyribonucleotides
- Ornithine Carbamoyltransferase