Functional and structural impact of the most prevalent missense mutations in classic galactosemia

Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucid...

Descripción completa

Detalles Bibliográficos
Autores principales: Coelho, Ana I, Trabuco, Matilde, Ramos, Ruben, Silva, Maria João, Tavares de Almeida, Isabel, Leandro, Paula, Rivera, Isabel, Vicente, João B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303218/
https://www.ncbi.nlm.nih.gov/pubmed/25614870
http://dx.doi.org/10.1002/mgg3.94

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303218/
https://www.ncbi.nlm.nih.gov/pubmed/25614870
http://dx.doi.org/10.1002/mgg3.94

Ejemplares similares