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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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| Pubblicato in: | Front Pediatr |
|---|---|
| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7056728/ https://ncbi.nlm.nih.gov/pubmed/32175296 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00071 |
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