Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model
琥珀酸补充剂可改善BCARD综合征模型中由PLOD3突变引起的肌肉骨骼缺陷
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-026-01608-y
Choudhary, Dharmendra; Unlu, Gokhan; Nagai, Taylor H; Melville, David B; Scalici, Alexandra; Hashem, Mais O; Ritter, Dylan J; Schmidt, Georg; Guthrie, Cory L; Gamazon, Eric R; Alkuraya, Fowzan S; Cox, Nancy J; Knapik, Ela W
