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Reagents, Molecular Assay, Gene Anomaly, Mutation, BTD

Definition : Molecular assay reagents intended to identify mutations in the biotinidase (BTD) gene, located at chromosome 3p25, which encodes for the enzyme biotinase that facilitates the use and regulation of B vitamin (biotin). Mutations at this locus have been identified in patients with biotinidase deficiency (also called late-onset multiple carboxylase deficiency).

Entry Terms : "Multiple Carboxylase Deficiency Gene Mutation Detection Reagents" , "Combined Carboxylase Deficiency Gene Mutation Detection Reagents" , "Biotin-Responsive Multiple Carboxylase Deficiency Gene Mutation Detection Reagents" , "Juvenile Multiple Carboxylase Deficiency Gene Mutation Detection Reagents" , "BTD Gene Mutation Detection Reagents"

UMDC code : 24323

   

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