Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
两个家族中 SLC39A14 基因的新型创始人内含子变异导致锰中毒，并探讨了潜在的治疗策略
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2018.04.002
Rodan Lance H, Hauptman Marissa, D'Gama Alissa M, Qualls Anita E, Cao Siqi, Tuschl Karin, Al-Jasmi Fatma, Hertecant Jozef, Hayflick Susan J, Wessling-Resnick Marianne, Yang Edward T, Berry Gerard T, Gropman Andrea, Woolf Alan D, Agrawal Pankaj B
