Article
Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.
Clinical genetics - 1 Dec 1993
Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu L, Marfany G, Lissens W, Gonzàlez-Duarte R
Abstract excerpt
Pseudodeficiency in arylsulphatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). Unambiguous discrimination between the two conditions cannot be achieved through conventional enzyme activity assays. A PCR method has been developed which detects the pseudodeficiency (pd) allele using a...
Topics
- Alleles
- Arylsulfatases
- Base Sequence
- DNA
- Gene Frequency
- Genotype
- Hair
- Humans
- Molecular Sequence Data
- Polymerase Chain Reaction
- Spain