Article
Molecular genetics of metachromatic leukodystrophy.
Developmental neuroscience - 1 Jan 1991
Gieselmann V, Polten A, Kreysing J, Kappler J, Fluharty A, von Figura K
Abstract excerpt
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA). The ASA cDNA as well as the gene has been cloned. The gene is about 3 kb long and consists of 8 exons. The two most frequent alleles causing MLD have been characterized and the dis...
Topics
- Alleles
- Cerebroside-Sulfatase
- Child
- DNA Mutational Analysis
- Diagnosis, Differential
- Exons
- False Negative Reactions
- Female
- Fetal Diseases
- Genes
- Humans
- Leukodystrophy, Metachromatic
- Lysosomes
- Male
- Poly A
- Pregnancy
- Prenatal Diagnosis
- RNA, Messenger