Article
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.
Journal of inherited metabolic disease - 1 Aug 1997
Kleijer W J, Keulemans J L, van der Kraan M, Geilen G G, van der Helm R M, Rafi M A, Luzi P, Wenger D A, Halley D J, van Diggelen O P
Abstract excerpt
Sixty-four unrelated patients with infantile Krabbe disease (globoid cell leukodystrophy, GLD) of Dutch (n = 41) or other European origin (n = 23) were screened for the presence of a large 30 kb deletion starting in intron 10 (IVS10del30 kb), a base substitution 1538T(T513M) and a polymorphism, 5...
Topics
- Alleles
- Cell Line
- DNA
- DNA Mutational Analysis
- Europe
- Fibroblasts
- Gene Deletion
- Haplotypes
- Heterozygote
- Humans
- Leukodystrophy, Globoid Cell
- Mutation
- Netherlands
- Polymorphism, Genetic
- Skin