Article
Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice.
The Journal of clinical investigation - 1 Dec 2000
Lee M P, Ravenel J D, Hu R J, Lustig L R, Tomaselli G, Berger R D, Brandenburg S A, Litzi T J, Bunton T E, Limb C, Francis H, Gorelikow M, Gu H, Washington K, Argani P, Goldenring J R, Coffey R J, Feinberg A P
Abstract excerpt
The KvLQT1 gene encodes a voltage-gated potassium channel. Mutations in KvLQT1 underlie the dominantly transmitted Ward-Romano long QT syndrome, which causes cardiac arrhythmia, and the recessively transmitted Jervell and Lange-Nielsen syndrome, which causes both cardiac arrhythmia and congenital deafness. KvLQT1 is also disrupted by balanced germline chromosomal rearrangements in patients with Beckwith-Wiedemann...
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