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Insight on molecular pathogenesis and pharmacochaperoning potential in Phosphomannomutase 2 (PMM2) deficiency, provided by novel human PMM2 structures.

Alvaro Briso-MontianoFrancisco Del Caño-OchoaAlicia VilasAdrian Velázquez-CampoyVicente RubioBelén PérezSantiago Ramón-Maiques
Published in: Journal of inherited metabolic disease (2021)
Keyphrases
  • endothelial cells
  • induced pluripotent stem cells
  • high resolution
  • pluripotent stem cells
  • human health
  • replacement therapy