31584066

Summary
Title
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.
Authors
  • Indellicato R
  • Domenighini R
  • Malagolini N
  • Cereda A
  • Mamoli D
  • Pezzani L
  • Iascone M
  • dall'Olio F
  • Trinchera M
Source
Glycobiology
Publication Date
2020 Jan 28
PubMed ID
31584066

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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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