Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
由于新生 CLCN7 变体对溶酶体酸化的影响而导致的溶酶体储存和白化病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.04.008
Elena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M Zein, Peter R Baker 2nd, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R Adams, Patricia M Zerfas, Dong Chen, Thomas C Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu; Undiagnos
