Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.

doi:10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L

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Article

Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.

Human mutation - 1 Jan 1999

Gort L, Coll M J, Chabás A

Abstract excerpt

Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unrelated Spanish MLD patients. A systematic search allowed us to identify 100% of the alleles involving 17 different...

Topics

Adolescent
Adult
Age of Onset
Alleles
Cells, Cultured
Cerebroside-Sulfatase
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 22
DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Fibroblasts

Gene Frequency

Haplotypes

Humans

Infant

Leukodystrophy, Metachromatic

Source

Open in PubMed

Identifiers

PMID: 10477432
DOI: 10.1002/(SICI)1098-1004(1999)14:3<240::AID-HUMU7>3.0.CO;2-L

Genes

ARSA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.PMID 10477432Read ↗

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