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Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia
Type I galactosemia is a genetic disorder that is caused by the impairment of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12). Although a large number of mutations have been detected through genetic screening of the human GALT (hGALT) locus, for many it is not known how they cause thei...
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2013
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3679265/ https://ncbi.nlm.nih.gov/pubmed/23583749 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.04.004 |
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