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Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.

Dalanda WanesTammy StellbrinckLara M MartenRené SanterHassan Y Naim
Published in: Gut (2023)
Keyphrases
  • wild type
  • copy number
  • intellectual disability
  • reactive oxygen species
  • autism spectrum disorder
  • gene expression