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Reagents, Molecular Assay, Gene Anomaly, Mutation, CHRNA4

Definition : Molecular assay reagents intended to identify mutations in the cholinergic receptor, nicotinic, alpha polypeptide 4 (CHRNA4) gene, located at chromosome 20q13.2-q13.3, 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 (ADNFLE) and other forms of epilepsy.

Entry Terms : "Type 1 Nocturnal Frontal Lobe Epilepsy Gene Mutation Detection Reagents" , "CHRNA4 Gene Mutation Detection Reagents"

UMDC code : 24339

   

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