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, 502T. The deletion and the T513M mutation were present in 52% and 8.5%, respectively, of the 82 GALC alleles of the...
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