Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants
S. Watanabe, Ming Lei, Eiji Nakagawa, Eri Takeshita, Kei‐ichiro Inamori, Fumi Shishido, Masayuki Sasaki, Satomi Mitsuhashi, Naomichi Matsumoto, Yuiko Kimura, Masaki Iwasaki, Yūji Takahashi, Hidehiro Mizusawa, Ohsuke Migita, Isao Ohno, Jin‐ichi Inokuchi
Topics & Concepts
Compound heterozygosityExome sequencingLactosylceramidePopulationMedicineGeneticsBiologyAlleleMutationImmunologyGeneEnvironmental healthGlycolipidGlycosylation and Glycoproteins ResearchLysosomal Storage Disorders ResearchCarbohydrate Chemistry and Synthesis