A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia

Classic galactosemia (CG) is a potentially lethal genetic disease that results from profound impairment of galactose-1-P uridylyltransferase (GALT), the middle enzyme in the Leloir pathway of galactose metabolism. Patients with CG carry pathogenic loss-of-function mutations in both of their GALT all...

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Vydáno v:JIMD Rep
Hlavní autoři: Tran, Thanh-Thanh (Claire) V., Liu, Ying, Zwick, Michael E., Ramachandran, Dhanya, Cutler, David J., Huang, Xiaoping, Berry, Gerard T., Fridovich-Keil, Judith L.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501235/
https://ncbi.nlm.nih.gov/pubmed/25681079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_349
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