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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Coelho, Ana I, Trabuco, Matilde, Ramos, Ruben, Silva, Maria João, Tavares de Almeida, Isabel, Leandro, Paula, Rivera, Isabel, Vicente, João B
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BlackWell Publishing Ltd 2014
Gaiak:
Original Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303218/
https://ncbi.nlm.nih.gov/pubmed/25614870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.94
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