Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS)
- 10 April 1995
- Vol. 26 (3) , 535-542
- https://doi.org/10.1016/0888-7543(95)80172-i
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24Genomics, 1993
- Morquio disease: Isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfataseBiochemical and Biophysical Research Communications, 1991
- Hot Spots for Growth Hormone Gene Deletions in Homologous Regions Outside of Alu RepeatsScience, 1990
- Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA−SCID patientsGenomics, 1990
- Copy choice illegitimate DNA recombinationCell, 1988
- Base sequence studies of 300 nucleotide renatured repeated human DNA clonesJournal of Molecular Biology, 1981
- Genetic studies of the lac repressorJournal of Molecular Biology, 1978
- The enzymic defect in Morquio's disease: The specificity of N-acetylhexosamine sulfatasesBiochemical and Biophysical Research Communications, 1978
- N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.Journal of Clinical Investigation, 1976
- Morquio's syndrome: Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfataseBiochemical and Biophysical Research Communications, 1974