Site specific screening for point mutations in ornithine transcarbamylase deficiency. [electronic resource]
Producer: 19920828Description: 471-5 p. digitalISSN:- 0022-2593
- Amino Acid Metabolism, Inborn Errors -- enzymology
- Ammonia -- blood
- Base Sequence
- Binding Sites -- genetics
- Female
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation -- genetics
- Neonatal Screening -- methods
- Oligodeoxyribonucleotides -- genetics
- Ornithine Carbamoyltransferase -- genetics
- Ornithine Carbamoyltransferase Deficiency Disease
- Pedigree
- Polymorphism, Restriction Fragment Length
- X Chromosome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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