Article
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
Human molecular genetics - 1 Mar 1995
Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi G M, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orü T
Abstract excerpt
Mutations causing mucopolysaccharidosis IVA in 15 Japanese and one Caucasian patient were characterized. To screen these mutations, we used a combination of single strand conformation polymorphism analysis and heteroduplex analysis for PCR products of targeted cDNA or genomic DNA. Various small m...
Topics
- Alleles
- Asian People
- Base Sequence
- Chondroitinsulfatases
- Exons
- Female
- Fibroblasts
- Humans
- Male
- Models, Genetic
- Molecular Sequence Data
- Mucopolysaccharidosis IV
- Mutagenesis, Site-Directed
- Mutation
- Oligonucleotide Probes