Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.

@article{Bagshaw2002NovelM,
  title={Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.},
  author={R. Bagshaw and S. Zhang and A. Hinek and M. A. Skomorowski and D. Whelan and J. Clarke and J. Callahan},
  journal={Biochimica et biophysica acta},
  year={2002},
  volume={1588 3},
  pages={
          247-53
        }
}
Primary deficiency of beta-galactosidase results in GM1 gangliosidosis and Morquio B disease. Of the more than 40 disease-causing mutations described in the Gal gene to date, about 75% are of the missense type and are scattered along the length of the gene. No single, major common mutation has been associated with GM1 gangliosidosis. However, a Trp 273 Leu mutation has been commonly found in the majority of patients with Morquio B disease defined genotypically to date. We now report three new… Expand
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