Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GJB1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GJB1

Definition : Molecular assay reagents intended to identify mutations in the gap junction protein, beta 1, 32kDa (connexin 32) (GJB1) gene, located at chromosome Xq13.1, which encodes for the gap junction protein, beta 1 (also known as connexin 32) that plays a role in cell communication. Mutations at this locus have been identified in 90% of patients with hereditary X-linked dominant Charcot-Marie-Tooth neuropathy type 1.

Entry Terms : "Type 1 X-Linked Charcot-Marie-Tooth Neuropathy Gene Mutation Detection Reagents" , "GJB1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GJB1"

UMDC code : 24444

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