A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
大面积基因组缺失导致层蛋白 B1 基因采用增强子：成人发病的常染色体显性脱髓鞘性脑白质营养不良 (ADLD) 的第二条途径
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddv065
Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, Len A Pennacchio, Stylianos E Antonarakis, Alessandro Brussin
