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Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene

✍ Scribed by Dobrowolski, Steven F.; Banas, Richard A.; Suzow, Joseph G.; Berkley, Michelle; Naylor, Edwin W.


Book ID
121766593
Publisher
American Society for Investigative Pathology
Year
2003
Tongue
English
Weight
233 KB
Volume
5
Category
Article
ISSN
1525-1578

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Classical galactosemia and mutations at
✍ 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