Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates
DPAGT1基因突变会导致肢带型先天性肌无力综合征,并伴有管状聚集体。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.05.022
Belaya, Katsiaryna; Finlayson, Sarah; Slater, Clarke R; Cossins, Judith; Liu, Wei Wei; Maxwell, Susan; McGowan, Simon J; Maslau, Siarhei; Twigg, Stephen R F; Walls, Timothy J; Pascual Pascual, Samuel I; Palace, Jacqueline; Beeson, David