Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
由于 B3GALT6 突变导致糖胺聚糖合成启动缺陷，引起多效性 Ehlers-Danlos 综合征样结缔组织疾病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.04.016
Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, Caroline Gauche, Delfien Syx, Faten Merhi-Soussi, Sandrine Gulberti, Sofie Symoens, Suzanne Vanhauwaert, Andy Willaert, Bita Bozorgmehr, Mohamad Hasan Kariminejad, Nazanin Ebrahimiadib, Ingrid Hausser, Ann Huysseune, Sylvie Fournel-Gigleux, Anne
