Complex arylsulfatase A alleles causing metachromatic leukodystrophy.

doi:10.1002/humu.1380040205

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Article

Complex arylsulfatase A alleles causing metachromatic leukodystrophy.

Human mutation - 1 Jan 1994

Kappler J, Sommerlade H J, von Figura K, Gieselmann V

Abstract excerpt

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of a patient affected with late infantile metachromatic leukodystrophy revealed that the patient is a compound heterozygote of two alleles carrying two...

Topics

Alleles
Base Sequence
Cerebroside-Sulfatase
Child, Preschool
DNA, Complementary
Gene Frequency
Humans
Leukodystrophy, Metachromatic
Molecular Sequence Data
Oligonucleotide Probes
Point Mutation

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