A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1

Xiping Chen
, Olawale Raimi
, Andrew Ferenbach
, Daan van Aalten (Lead / Corresponding author)

MRC PPU

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

107 Downloads (Pure)

1 results
- Title(descending)
- Award date

Investigating the role of UDP-N-acetylhexosamine pyrophosphorylases in regulating O-GlcNAcylation in human disease
Chen, X. (Author), van Aalten, D. (Supervisor), 2021
Student thesis: Doctoral Thesis › Doctor of Philosophy

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