A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide hyaluronic acid. UGDH is critical to the produc...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-02-01T00:00:00Z.
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