Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma
DENND5A基因中一种新的功能缺失变异阻碍了黑素体货物运输,并使人易患家族性皮肤黑色素瘤。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2021.09.003
Yang, Muyi; Johnsson, Per; Bräutigam, Lars; Yang, Xiaohong R; Thrane, Kim; Gao, Jiwei; Tobin, Nicholas P; Zhou, Yitian; Yu, Rong; Nagy, Noemi; Engström, Pär G; Tuominen, Rainer; Eriksson, Hanna; Lundeberg, Joakim; Tucker, Margaret A; Goldstein, Alisa M; Egyhazi-Brage, Suzanne; Zhao, Jian; Cao, Yihai; Höiom, Veronica