Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase

Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT). Patients with Duarte galactosemia demonstrate reduced GALT activity and carry one profoundly impaired GALT allele (G) along with a second, partially impai...

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Autors principals: Carney, Amanda E., Sanders, Rebecca D., Garza, Kerry R., McGaha, Lee Anne, Bean, Lora J. H., Coffee, Bradford W., Thomas, James W., Cutler, David J., Kurtkaya, Natalie L., Fridovich-Keil, Judith L.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2009
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667289/
https://ncbi.nlm.nih.gov/pubmed/19224951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp080
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