Article
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
American journal of human genetics - 1 Sept 1995
Tomatsu S, Fukuda S, Cooper A, Wraith J E, Rezvi G M, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K
Abstract excerpt
Mucopolysaccharidosis IVA is an autosomal recessive lysosomal storage disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. The recent isolation and characterization of cDNA and genomic sequences encoding GALNS has facilitated identification of the molecular lesions that cause MPS IVA. We identified a common missense mutation among Caucasian MPS IVA patients. The mutation was originally...
Topics
- Base Sequence
- Child
- Child, Preschool
- Chondroitinsulfatases
- Chromosome Mapping
- Female
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mucopolysaccharidosis IV