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Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts

โœ Scribed by C. Yager; J. Gibson; B. States; L.J. Elsas; S. Segal


Book ID
110292061
Publisher
Springer
Year
2001
Tongue
English
Weight
108 KB
Volume
24
Category
Article
ISSN
0141-8955

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The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive