Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.

UDP-galactose-4-epimerase (GALE) is a highly conserved enzyme that catalyzes the interconversion of UDP-galactose and UDP-glucose. Impairment of this enzyme in humans results in one of two clinically distinct forms of epimerase-deficiency galactosemia-one benign, the other severe. The molecular and...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Quimby, B B, Alano, A, Almashanu, S, DeSandro, A M, Cowan, T M, Fridovich-Keil, J L
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1997
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715948/
https://ncbi.nlm.nih.gov/pubmed/9326324
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