Article
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
Human molecular genetics - 1 Aug 1995
Rafi M A, Luzi P, Chen Y Q, Wenger D A
Abstract excerpt
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 of the GALC cDNA and availability of information regarding the gene organization, patients can be evaluated for...
Topics
- Alleles
- Animals
- Base Sequence
- Cell Line
- Child
- DNA Primers
- DNA, Complementary
- Galactosylceramidase
- Gene Expression
- Heterozygote
- Homozygote
- Humans