29452367

Summary
Title
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
Authors
  • Takeuchi H
  • Wong D
  • Schneider M
  • Freeze HH
  • Takeuchi M
  • Berardinelli SJ
  • Ito A
  • Lee H
  • Nelson SF
  • Haltiwanger RS
Source
Glycobiology
Publication Date
2018 May 1
PubMed ID
29452367

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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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