Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.
作者： Tom Litjens , Elizabeth G. Baker , Kerri R. Beckmann , C. Phillip Morris , John J. Hopwood
DOI: 10.1007/BF00288275
关键词:
摘要: A deficiency of N-acetylgalactosamine-4-sulphatase (G4S, gene symbol ARSB), results in the accumulation undegraded substrate and lysosomal storage disorder, Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). In situ hybridization using an 3H-labelled human G4S genomic DNA fragment to metaphase chromosomes localized ARSB chromosome 5q13–5q14. This location is consistent with, refines, previous chromosomal assignments based on expression somatic cell hybrids.
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