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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ. Plaster NM, et al. Among authors: ptacek lj. Cell. 2001 May 18;105(4):511-9. doi: 10.1016/s0092-8674(01)00342-7. Cell. 2001. PMID: 11371347 Free article.
A novel gene causing a mendelian audiogenic mouse epilepsy.
Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ. Skradski SL, et al. Among authors: ptacek lj. Neuron. 2001 Aug 30;31(4):537-44. doi: 10.1016/s0896-6273(01)00397-x. Neuron. 2001. PMID: 11545713 Free article.
206 results