Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1
常染色体隐性先天性小脑共济失调是由代谢型谷氨酸受体 1 突变引起的
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.07.019
Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, Katherine R Smith, Teodora Chamova, Laura Florez, Michael Bynevelt, Thai Nguyen, Sylvia Cherninkova, Veneta Bojinova, Ara Kaprelyan, Lyudmila Angelova, Bharti Morar, David Chandler, Radka Kaneva, Melanie Bahlo, Ivailo Tournev, Luba Kalaydji