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A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant

✍ Scribed by W. G. NG; W. R. BERGREN; G. N. DONNELL

Book ID
115247295
Publisher
John Wiley and Sons
Year
1973
Tongue
English
Weight
448 KB
Volume
37
Category
Article
ISSN
0003-4800

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Enzymatic activity and electrophoretic mobility of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) were assayed in a Mexican family (8 sibs and their parents) with two galactosemic members. Normal, galactosemic and Los Angeles enzyme variants were identified. A survey of the ethnological backg

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The enzyme galactose-1-phosphate uridyl transferase (E.C.2.7.7.12), which has an important function in the metabolism of galactose, exists in multiple molecular forms. The different phenotypes are genetically determined. They can be distinguished according to their electrophoretic mobility. The enzy