Identification of novel mutations in classical galactosemia
β Scribed by Annet M. Bosch; Lodewijk IJlst; Wendy Oostheim; Joyce Mulders; Henk D. Bakker; Frits A. Wijburg; Ronald J.A. Wanders; Hans R. Waterham
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 177 KB
- Volume
- 25
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
A study of the galactose-1-phosphate uridyltransferase (GALT) gene from 37 unrelated galactosemia families is reported here. A total of 16 sequence variations in eleven mutated alleles was found. The two most common molecular defects were the mutations Q188R (46.0%) and K285N (25.7%). Six novel muta
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
Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The most common variant of GALT, the Duarte variant, occurs as two types, Duarte-1 (D-1) and Duarte-2 (D-2), both of which carry the sequ
Cummunicated by Sauio L. C. Woo We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N 3 14D and R333W mutations, previously found in Caucasians. One novel missense mutation was an G-to-A transit