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


SummaryWe 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 acceptor site in intron 4 (ca g G→ca a G: designated IVS 4… (More)
DOI: 10.1007/BF02766953


3 Figures and Tables