Article
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Human mutation - 1 Jan 1997
Tomatsu S, Fukuda S, Cooper A, Wraith J E, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly W S, Orii T
Abstract excerpt
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here, we report our analysis of data on 21 patients of diverse ethnic and geographic origins studied by SSCP and sequencing analysis. Sixteen m...
Topics
- Chondroitinsulfatases
- DNA, Complementary
- Humans
- Mucopolysaccharidosis IV
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational