Human beta-galactosidase gene mutations in morquio B disease.

  title={Human beta-galactosidase gene mutations in morquio B disease.},
  author={Akira Oshima and Kenichi Yoshida and Michie Shimmoto and Yoko Fukuhara and Hitoshi Sakuraba and Yuka Suzuki},
  journal={American journal of human genetics},
  volume={49 5},
Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restriction-site analysis using StuI, Nsp(7524)I or RsaI confirmed these mutations. In human fibroblasts, mutation F expressed as much as 8% of the normal allele's enzyme activity, but the other mutations… CONTINUE READING

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