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Reagents, Molecular Assay, Gene Anomaly, Mutation, SLC2A1

Definition : Molecular assay reagents intended to identify mutations in the solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) gene, located at chromosome 1p35-p31.3, which encodes for a major glucose transporter in the mammalian blood-brain barrier. This inherited genetic mutation has been identified in patients with glucose transporter type 1 deficiency syndrome.

Entry Terms : "Glucose Transporter Protein Syndrome Gene Mutation Reagents" , "Blood-Brain Barrier Glucose Transport Defect Gene Mutation Reagents" , "Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) Gene Mutation Reagents" , "SLC2A1 Gene Mutation Detection Reagents"

UMDC code : 24972

   

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