Načítá se...
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...
Uloženo v:
| Hlavní autoři: | , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2013
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|