- Clinical and molecular analysis of a Japanese boy with Morquio B disease.
Clinical and molecular analysis of a Japanese boy with Morquio B disease.
Clinical genetics (1995-08-01)
N Ishii, T Oohira, A Oshima, H Sakuraba, F Endo, I Matsuda, K Sukegawa, T Orii, Y Suzuki
PMID7586649
ABSTRACT
Morquio B disease was found in a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurological manifestations. Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts. Gene analysis revealed two mutant alleles, 83Tyr-->His (Y83H) and 482Arg-->Cys (R482C). The former expressed a low enzyme activity (2-5% of normal), and the latter expressed no detectable enzyme activity.
MATERIALS
Product Number
Brand
Product Description
Sigma-Aldrich
β-Galactosidase from Escherichia coli, suitable for enzyme immunoassay, lyophilized, powder, ~140 U/mg
Sigma-Aldrich
β-Galactosidase from Escherichia coli, aqueous glycerol suspension, ≥500 units/mg protein (biuret)
Sigma-Aldrich
β-Galactosidase from Escherichia coli, Grade VIII, lyophilized powder, ≥500 units/mg protein
Sigma-Aldrich
β-Galactosidase from Escherichia coli, Grade VI, lyophilized powder, ≥250 units/mg protein
Sigma-Aldrich
β-Galactosidase from bovine testes, ammonium sulfate suspension, 1.0-3.0 units/mg protein (modified Warburg-Christian)
Sigma-Aldrich
β-Galactosidase from bovine liver, Grade III, lyophilized powder, ≥0.15 units/mg protein