In vivo and in vitro function of human UDP-galactose 4′-epimerase variants
Type III galactosemia results from reduced activity of the enzyme UDP-galactose 4′-epimerase. Five disease-associated alleles (G90E, V94M, D103G, N34S and L183P) and three artificial alleles (Y105C, N268D, and M284K) were tested for their ability to alleviate galactose-induced growth arrest in a Sac...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Editions Scientifiques Elsevier
2011
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168732/ |