Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency
ST3GAL5 的两个保守唾液酸转移酶基序内的复合杂合变异导致 GM3 合酶缺乏
期刊:JIMD Reports
影响因子:
doi:10.1002/jmd2.12353
Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, Lynda Holloway, Cindy Skinner, Anna Hurst, Michael Tiemeyer, Richard Steet
