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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
