Shortcast: Compound heterozygous variants in 2 sialyltransferase ST3GAL5 motifs cause GM3SD
Release Date:
Dr Richard Steet discusses his group's recent work describing compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 leading to GM3 synthase deficiency.
Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency
Natasha Rudy, et al
https://doi.org/10.1002/jmd2.12353
Shortcast: Compound heterozygous variants in 2 sialyltransferase ST3GAL5 motifs cause GM3SD