30576498

Summary
Title
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
Authors
  • Indellicato R
  • Parini R
  • Domenighini R
  • Malagolini N
  • Iascone M
  • Gasperini S
  • Masera N
  • dall'Olio F
  • Trinchera M
Source
Glycobiology
Publication Date
2019 Mar 1
PubMed ID
30576498

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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