Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GJB6

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GJB6

Definition : Molecular assay reagents intended to identify mutations in the gap junction protein, beta 6 (connexin 30) (GJB6), located at chromosome 13q12, which encodes for the protein connexin 30 that forms channels called gap junctions between neighboring cells. Mutations at this locus have been identified in patients with both neurosensory nonsyndromic hearing loss and deafness type 3 (NSHLD3); they are also present in patients with hydrotic ectodermal dysplasia (Clouston's syndrome, HED2).

Entry Terms : "Alopecia R-Deafness Gene Mutation Detection Reagents" , "Hydrotic Ectodermal Dysplasia Type 2 (HED2) R-Deafness Gene Mutation Detection Reagents" , "DFNB1 Locus Nonsyndromic Congenital Deafness Gene Mutation Detection Reagents" , "DFNA3 Locus Nonsyndromic Congenital Deafness Gene Mutation Detection Reagents" , "Autosomal Nonsyndromic Hearing Loss/Deafness (NSHLD) Gene Mutation Detection Reagents" , "Nonsyndromic Hearing Loss/Deafness (NSHLD) Gene Mutation Detection Reagents" , "Deafness Gene Mutation Detection Reagents" , "GJB6 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GJB6"

UMDC code : 24446

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