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Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia

✍ Scribed by Fanny Schapira; Jean-Claude Kaplan

Book ID
118851123
Publisher
Elsevier Science
Year
1969
Tongue
English
Weight
878 KB
Volume
35
Category
Article
ISSN
0006-291X

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πŸ“œ SIMILAR VOLUMES

Classical galactosemia and mutations at
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
✍ Linda Tyfield; Juergen Reichardt; Judy Fridovich-Keil; David T. Croke; Louis J. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 763 KB

Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes