A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease

Galactocerebrosidase (GALC) activity is deficient in all patients with globoid cell leukodystrophy (GLD). While most patients have the severe infantile form of this autosomal recessive disorder (Krabbe disease), patients up to 50 years of age have been diagnosed in this laboratory. With the cloning...

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