Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

Article

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

American journal of human genetics - 1 Aug 1991

Gieselmann V, Fluharty A L, Tønnesen T, Von Figura K

Abstract excerpt

We identified a patient suffering from late infantile metachromatic leukodystrophy who genetically seemed to be homozygous for the mutations signifying the arylsulfatase A pseudodeficiency allele. Homozygosity for the pseudodeficiency allele is associated with low arylsulfatase A activity but doe...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Cells, Cultured
Cerebroside-Sulfatase
Exons
Female
Genotype
Homozygote
Humans
Leukodystrophy, Metachromatic
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.