HIGHLIGHTS
- who: September and collaborators from the Sohag University, Egypt Mahidol University, Thailand have published the article: Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identi ed via newborn screening, in the Journal: (JOURNAL)
- what: Although in_vitro expression systems do not mimic nor represent the in_vivo genetic complexity and human physiologic background, the authors demonstrate the utility of HEK293 cells in GAA expression systems.
- how: The authors developed an in vitro mammalian cell expression and functional analysis system based on guidelines . . .
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