The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients
โ Scribed by F. Mirzajani; R. Mirfakhraie; F. Nabati; N. Naghibzadeh Tabatabaei; E. Talachian; M. Houshmand
- Book ID
- 108095369
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 83 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0009-9120
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๐ SIMILAR VOLUMES
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
The frequency of variants of galactose-1-phosphate uridyl transferase was determined among the nine Greek populations by studying a sample of 1570 unselected individuals. Average frequency of normal allele GALT=0.942, galactosemia gen GALTG=0.0021 and the Duarte variant gene GALTD=0.0548 were observ