[Molecular basis of mucopolysaccaridosis type VII (beta-glucuronidase deficiency)].

Article

[Molecular basis of mucopolysaccaridosis type VII (beta-glucuronidase deficiency)].

Rinsho byori. The Japanese journal of clinical pathology - 1 Sept 1990

Tomatsu S, Fukuda S, Sukegawa K, Yamaguchi S, Sasaki T, Ikedo Y, Orii T

Abstract excerpt

We have identified several mutations causing beta-glucuronidase (beta Gl) deficiency in three cases with mucopolysaccaridosis type VII (MPS VII). Enzyme assay of lysates of these lymphocytes or cultured fibroblasts showed little residual activity and that the beta Gl-specific mRNA levels were nor...

Topics

Amino Acid Sequence
Blotting, Northern
Cloning, Molecular
Glucuronidase
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Transfection

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