Abstract
A deficiency of N-acetylgalactosamine-4-sulphatase (G4S, gene symbol ARSB), results in the accumulation of undegraded substrate and the lysosomal storage disorder, Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). In situ hybridization using an 3H-labelled human G4S genomic DNA fragment to human metaphase chromosomes localized ARSB to chromosome 5q13-5q14. This location is consistent with, an refines, previous chromosomal assignments based on the expression of human G4S in somatic cell hybrids.
| Original language | English |
|---|---|
| Pages (from-to) | 67-68 |
| Number of pages | 2 |
| Journal | Human Genetics |
| Volume | 82 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published or Issued - Apr 1989 |
| Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)