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A β-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis

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References

  • Mosna G, Fattore S, Tubiello G, Brocca S, Trubia M, Gianazza E, Gatti R, Danesino C, Minelli A, Piantanida M (1992) A homozygous missense arginine to histidine substitution at position 482 of the β-galactosidase in an Italian infantile GM1-gangliosidosis patient. Hum Genet 90: 247–250

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  1. Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, 113, Tokyo, Japan

    Y. Suzuki & A. Oshima

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  1. Y. Suzuki
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  2. A. Oshima
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Suzuki, Y., Oshima, A. A β-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis. Hum Genet 91, 407 (1993). https://doi.org/10.1007/BF00217370

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  • DOI: https://doi.org/10.1007/BF00217370

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