Variant in human POFUT1 reduces enzymatic activity and...

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Glycobiology 2018 / 02

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features

Takeuchi, Hideyuki, Wong, Derek, Schneider, Michael, Freeze, Hudson H, Takeuchi, Megumi, Berardinelli, Steven J, Ito, Atsuko, Lee, Hane, Nelson, Stanley F, Haltiwanger, Robert S
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Language:
english
Journal:
Glycobiology
DOI:
10.1093/glycob/cwy014
Date:
February, 2018
File:
PDF, 6.09 MB
english, 2018
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