Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease
CLCN7 的功能获得性变异导致色素减退和溶酶体贮积症
期刊:Journal of Biological Chemistry
影响因子:4
doi:10.1016/j.jbc.2024.107437
Maya M Polovitskaya, Tanushka Rana, Kurt Ullrich, Simona Murko, Tatjana Bierhals, Guido Vogt, Tobias Stauber, Christian Kubisch, René Santer, Thomas J Jentsch
