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Correlation Assessment among Clinical Phenotypes, Expression Analysis and Molecular Modeling of 14 Novel Variations in the Human Galactose-1-phosphate Uridylyltransferase Gene
Galactose-1-phosphate uridylyltransferase (GALT) catalyses the conversion of galactose-1-phosphate to UDP-galactose, a key step in the galactose metabolism. Deficiency of GALT activity in humans caused by deleterious variations in the GALT gene can cause a potentially lethal disease called Classic G...
Sparad:
| Huvudupphovsmän: | , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2012
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3431212/ https://ncbi.nlm.nih.gov/pubmed/22461411 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22093 |
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