Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

@article{Ogawa1995MucopolysaccharidosisIS,
  title={Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.},
  author={Takeo Ogawa and Shunji Tomatsu and Seiji Fukuda and Atsushi Yamagishi and G. M. M. Rezvi and Kazuko Sukegawa and Naomi Kondo and Yuka Suzuki and Nobuyuki Shimozawa and T Or{\"u}},
  journal={Human molecular genetics},
  year={1995},
  volume={4 3},
  pages={341-9}
}
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 mutations were identified in 23 of 26 alleles, while the other six alleles had large rearrangements. Cycle sequencing of PCR products revealed 15 different mutations, including 12 missense, one nonsense… CONTINUE READING