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IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ASPA

Definition : Molecular assay reagents intended to identify mutations in the aspartoacylase (aminoacylase 2) (ASPA) gene, located at chromosome 17p13.3, which encodes for an enzyme that breaks down N-acetyl-L-aspartic acid (NAA) into aspartic acid and acetic acid. NAA is critical for maintaining the white matter of the brain and may also play a role in transporting water molecules out of nerve cells. Mutations at this locus have been identified in most patients with a type of leukodystrophy known as Canavan's disease (CD). The disease is also known as Canavan-van-Bogaert Bertrand disease.

Entry Terms : "Canavan-Van-Bogaert Bertrand Disease Gene Mutation Detection Reagents" , "Canavan Disease Gene Mutation Detection Reagents" , "Aspartoacylase (ASPA) Deficiency Gene Mutation Detection Reagents" , "ASPA Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ASPA"

UMDC code : 24301

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