Functional Analysis of the Human Galactose-1-Phosphate Uridyltransferase Promoter in Duarte and LA Variant Galactosemia
โ Scribed by Louis J. Elsas; Kent Lai; Carol J. Saunders; Sharon D. Langley
- Book ID
- 115639833
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 283 KB
- Volume
- 72
- Category
- Article
- ISSN
- 1096-7192
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The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive
Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 84 % of all mutant alleles were identified in this