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Reagents, Molecular Assay, Gene Anomaly, Mutation, CHRNB2

Definition : Molecular assay reagents intended to identify mutations in the cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) (CHRNB2) gene, located at chromosome 1q21.3, which encodes for a subunit of a receptor that mediates fast signal transmission at synapses. Mutations at this locus have been identified in many patients with autosomal dominant nocturnal frontal lobe epilepsy type 3 (ADNFLE type 3) and other forms of epilepsy.

Entry Terms : "Frontal Lobe Epilepsy Gene Mutation Detection Reagents" , "Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Gene Mutation Detection Reagents" , "Type 3 Nocturnal Frontal Lobe Epilepsy Gene Mutation Detection Reagents" , "CHRNB2 Gene Mutation Detection Reagents"

UMDC code : 24340

   

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