Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. [electronic resource]
Producer: 20060705Description: 877-83 p. digitalISSN:- 0141-8955
- Alleles
- Amino Acid Metabolism, Inborn Errors -- genetics
- Argininosuccinate Lyase -- genetics
- Child
- Child, Preschool
- DNA Mutational Analysis
- Exons
- Female
- Genetic Predisposition to Disease
- Genome
- Genotype
- Humans
- Infant, Newborn
- Male
- Mass Spectrometry
- Mutation
- Neonatal Screening
- Phenotype
- Reverse Transcriptase Polymerase Chain Reaction
- Saudi Arabia
- Sequence Analysis, DNA
- Spectrometry, Mass, Electrospray Ionization
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Publication Type: Case Reports; Journal Article
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