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Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family

✍ Scribed by B. Ibarra; G. Vaca; J. Sánchez-Corona; A. Hernández; M. L. Ramírez; J. M. Cantú

Publisher
Springer
Year
1979
Tongue
English
Weight
207 KB
Volume
48
Category
Article
ISSN
0340-6717

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✦ Synopsis

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 backgrounds of the individuals reported to date with the Los Angeles variant showed multiple origins that could be explained by an ancient and widespread gene mutation or, more probably, by further biochemical heterogeneity.

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Characterization of normal and abnormal
Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing
✍ R. I. Kelley; H. Harris; W. J. Mellman 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 749 KB

Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygo