Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)
- 1 January 1995
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 6 (2) , 195-196
- https://doi.org/10.1002/humu.1380060218
Abstract
No abstract availableThis publication has 4 references indexed in Scilit:
- Mucopolysaccharidosis IV A: Molecular Cloning of the Human N-Acetylgalactosamine-6-sulfatase Gene (GALNS) and Analysis of the 5′-Flanking RegionGenomics, 1994
- Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24Genomics, 1993
- Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.Journal of Clinical Investigation, 1992
- Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfataseBiochemical and Biophysical Research Communications, 1991