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Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase

✍ Scribed by T. Podskarbi; T. Kohlmetz; B. S. Gathof; B. Kleinlein; W. P. Bieger; U. Gresser; Y. S. Shin

Book ID: 105312808
Publisher: Springer
Year: 1996
Tongue: English
Weight: 498 KB
Volume: 19
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01799840

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A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolve