Article
Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.
Biochimica et biophysica acta - 12 Dec 2002
Bagshaw Richard D, Zhang Sunqu, Hinek Alina, Skomorowski Marie Anne, Whelan Donald, Clarke Joe T R, Callahan John W
Abstract excerpt
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...
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