Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase

Classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase (GALT). Over 300 disease-associated GALT mutations have been reported, with the majority being missense changes, although a better understanding of their underlying molecular e...

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Detalles Bibliográficos
Autores principales: McCorvie, Thomas J., Kopec, Jolanta, Pey, Angel L., Fitzpatrick, Fiona, Patel, Dipali, Chalk, Rod, Shrestha, Leela, Yue, Wyatt W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081055/
https://www.ncbi.nlm.nih.gov/pubmed/27005423
http://dx.doi.org/10.1093/hmg/ddw091

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081055/
https://www.ncbi.nlm.nih.gov/pubmed/27005423
http://dx.doi.org/10.1093/hmg/ddw091

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