L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability. [electronic resource]
Producer: 20120111Description: S375-9 p. digitalISSN:- 1573-2665
- Adolescent
- Adult
- Age of Onset
- Alcohol Oxidoreductases -- genetics
- Base Sequence
- Brain Diseases, Metabolic, Inborn -- complications
- Child
- Child, Preschool
- DNA Mutational Analysis
- Disease Progression
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Severity of Illness Index
- Tunisia
- Young Adult
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Publication Type: Journal Article
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