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Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene

โœ Scribed by Jama, Mohamed; Nelson, Lesa; Mao, Rong; Lyon, Elaine


Book ID
123368786
Publisher
American Society for Investigative Pathology
Year
2007
Tongue
English
Weight
825 KB
Volume
9
Category
Article
ISSN
1525-1578

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Classical galactosemia and mutations at
โœ Linda Tyfield; Juergen Reichardt; Judy Fridovich-Keil; David T. Croke; Louis J. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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