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Reagents, Molecular Assay, Gene Anomaly, Mutation, ALDH5A1

Definition : Molecular assay reagents intended to identify mutations in the aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) (ALDH5A1) gene, located at chromosome 6p22.2-p22.3, which is involved in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). Mutations at this locus have been identified in most patients with succinic semialdehyde dehydrogenase (SSADH) deficiency and 4-hydroxybutyric aciduria.

Entry Terms : "4-Hydroxybutyric Aciduria Gene Mutation Detection Reagents" , "Aciduria Gene Mutation Detection Reagents" , "Gamma-Hydroxybutyric Aciduria Gene Mutation Detection Reagents" , "Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency Gene Mutation Detection Reagents" , "ALDH5A1 Gene Mutation Detection Reagents"

UMDC code : 24284

   

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