𝔖 Bobbio Scriptorium
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Pitfalls in the radioactive method of galactose-1-phosphate uridyltransferase activity measurement

✍ Scribed by Y.S. Shin-Buehring; J. Schaub


Book ID
115823063
Publisher
Elsevier Science
Year
1980
Tongue
English
Weight
242 KB
Volume
106
Category
Article
ISSN
0009-8981

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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