Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. [electronic resource]
Producer: 20070724Description: 694-702 p. digitalISSN:- 1098-1004
- Amino Acid Sequence
- Animals
- Argininosuccinate Lyase -- blood
- Base Sequence
- Chromosomes, Human, Pair 7
- DNA Primers
- Erythrocytes -- enzymology
- Exons
- Genotype
- Humans
- Introns
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Pseudogenes
- Sequence Homology, Amino Acid
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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