Caricamento...
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...
Salvato in:
| Autori principali: | , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2013
|
| Soggetti: | |
| Accesso online: | 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 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|