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Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG. Rees MI, et al. Among authors: smart tg. J Biol Chem. 2003 Jul 4;278(27):24688-96. doi: 10.1074/jbc.M301070200. Epub 2003 Apr 8. J Biol Chem. 2003. PMID: 12684523 Free article.
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ. Rees MI, et al. Among authors: smart tg. Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006 Jun 4. Nat Genet. 2006. PMID: 16751771 Free PMC article.
185 results