Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway
与 TBCD 突变相关的婴儿神经退行性疾病，TBCD 是微管蛋白异二聚体组装途径中的重要基因
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddw292
Shimon Edvardson, Guoling Tian, Hayley Cullen, Hannah Vanyai, Linh Ngo, Saiuj Bhat, Adi Aran, Muhannad Daana, Naderah Da'amseh, Bassam Abu-Libdeh, Nicholas J Cowan, Julian Ik-Tsen Heng, Orly Elpeleg
