Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.

Epimerase-deficiency galactosemia results from impairment of the human enzyme UDP-galactose-4-epimerase (hGALE). We and others have identified substitution mutations in the hGALE alleles of patients with the clinically mild, peripheral form of epimerase deficiency. We report here the first identific...

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Detaylı Bibliyografya
Asıl Yazarlar: Wohlers, T M, Christacos, N C, Harreman, M T, Fridovich-Keil, J L
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1999
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377755/
https://ncbi.nlm.nih.gov/pubmed/9973283
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