Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
对因影响 ColQ C 端的致病变异导致的先天性肌无力综合征进行分子分析
期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms242216217
Susie Barbeau, Fannie Semprez, Alexandre Dobbertin, Laurine Merriadec, Florine Roussange, Bruno Eymard, Damien Sternberg, Emmanuel Fournier, Hanice Karasoy, Cécile Martinat, Claire Legay