Molecular basis for Duarte and Los Angeles variant galactosemia.

Human orythrocytes that are homozygous for the Duarte enzyme variant of galactosemia (D/D) have a characteristic isoform on isoelectric focusing and 50% reduction in galactose-1-phosphate uridyltransferase (GALT) enzyme activity. The Duarte biochemical phenotype has a molecular genotype of N314D/N31...

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Main Authors: Langley, S D, Lai, K, Dembure, P P, Hjelm, L N, Elsas, L J
Format: Artigo
Sprog:Inglês
Udgivet: 1997
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712399/
https://ncbi.nlm.nih.gov/pubmed/9012409
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