Article
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
American journal of medical genetics - 28 Jun 1996
Cole D E, Fukuda S, Gordon B A, Rip J W, LeCouteur A N, Rupar C A, Tomatsu S, Ogawa T, Sukegawa K, Orii T
Abstract excerpt
Morquio disease (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Patients commonly present in early infancy with growth failure, spondyloepiphyseal dysplasia, corneal opacification, and keratan sulfaturia, but milde...
Topics
- Adolescent
- Adult
- Age of Onset
- Alleles
- Amino Acid Sequence
- Blotting, Northern
- Blotting, Southern
- Cells, Cultured
- Child
- Chondroitinsulfatases
- Corneal Opacity
- Female
- Fibroblasts
- Glycosaminoglycans
- Hip