Browsing AHUS - Medisinsk divisjon by Author "Sand, Jette C."
Now showing items 1-1 of 1
-
Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
Braathen, Geir Julius; Sand, Jette C.; Bukholm, Geir; Russell, Michael B. (BMC neurology;7(1), Journal article; Peer reviewed, 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 ...