Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
与 COQ7 相关的原发性 CoQ10 缺乏症的表型、分子和功能特征：亚效配子变异和两种不同的疾病实体
期刊:Molecular Genetics and Metabolism
影响因子:3.7
doi:10.1016/j.ymgme.2023.107630
Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Rocha Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M de Gusmao, Tomi L Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi
