A missense mutation in a patient with developmental delay...

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FEBS Letters 2020 / 10

A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1

Chen, Xiping, Raimi, Olawale G., Ferenbach, Andrew T., van Aalten, Daan M.F.
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Journal:
FEBS Letters
DOI:
10.1002/1873-3468.13968
Date:
October, 2020
File:
PDF, 11.26 MB
2020
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