Article
The M34T allele variant of connexin 26.
Genetic testing - 1 Jan 2000
Cucci R A, Prasad S, Kelley P M, Green G E, Storm K, Willocx S, Cohn E S, Van Camp G, Smith R J
Abstract excerpt
GJB2 encodes the protein Connexin 26, one of the building blocks of gap junctions. Each Connexin 26 molecule can oligomerize with five other connexins to form a connexon; two connexons, in turn, can form a gap junction. Because mutations in GJB2 are the most common cause of congenital severe-to-p...
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