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

摘要

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.

材料

Product Number

品牌

产品描述

G5160

Sigma-Aldrich

β 半乳糖苷酶来源于米曲霉, ≥8.0 units/mg solid

G5635

Sigma-Aldrich

β 半乳糖苷酶来源于大肠杆菌, Grade VIII, lyophilized powder, ≥500 units/mg protein

G6008

Sigma-Aldrich