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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease

Braathen, Geir Julius; Sand, Jette C.; Bukholm, Geir; Russell, Michael B. (BioMed Central, 2007-07-09)

Background X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. Methods We describe two novel ...