Article
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
Human genetics - 1 Jan 1998
Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R
Abstract excerpt
A 9-bp deletion (2320del9) was detected in the arylsulfatase A genes of a patient with late infantile metachromatic leukodystrophy and of a patient with nonprogressive neurological symptoms and very low arylsulfatase A activity. Both patients are heterozygous for the deletion, which involves codo...
Topics
- Alleles
- Cerebroside-Sulfatase
- Child
- DNA Mutational Analysis
- Female
- Humans
- Intellectual Disability
- Leukodystrophy, Metachromatic
- Male
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Sequence Deletion