Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. [electronic resource]
Producer: 20030130Description: 137-44 p. digitalISSN:- 1096-7192
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- Child, Preschool
- DNA -- genetics
- DNA Mutational Analysis
- Exons
- Female
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Italy
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Ornithine Carbamoyltransferase -- genetics
- Ornithine Carbamoyltransferase Deficiency Disease -- enzymology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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