Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene
由于 COL6A1 基因的新突变导致的 VI 型胶原相关肌病的家族内表型变异
期刊:Journal of Neuromuscular Diseases
影响因子:3.2
doi:10.3233/JND-200476
Sergey N Bardakov, Roman V Deev, Raisat M Magomedova, Zoya R Umakhanova, Valérie Allamand, Corine Gartioux, Kamil Z Zulfugarov, Patimat G Akhmedova, Vadim A Tsargush, Angelina A Titova, Mikhail O Mavlikeev, Vadim L Zorin, Ekaterina N Chernets, Gimat D Dalgatov, Fedor A Konovalov, Artur A Isaev