Browsing Akershus Universitetssykehus HF by Subject "VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Nevrologi: 752"

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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. (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 ...