Article
Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.
The Japanese journal of human genetics - 1 Jun 1997
Fukuda S, Yamada N, Tomatsu S, Sukegawa K, Montaño A M, Hopwood J J, Muller V, Orii T, Kondo N
Abstract excerpt
We report here a novel splice site mutation in intron 4 of the gene for N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in an Afghanistan girl with severe mucopolysaccharidosis IVA (classical Morquio disease). Direct sequencing revealed a homozygous G to A transition in the conserved splice acc...
Topics
- Afghanistan
- Child
- Chondroitinsulfatases
- Female
- Humans
- Mucopolysaccharidosis IV
- Mutation
- Polymerase Chain Reaction