Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

Abstract excerpt

Four prior mutations have been reported in three patients with beta-glucuronidase deficiency mucopolysaccharidosis (MPS VII), none of whom had the severe, infantile, hydropic form of the disease. We identified two mutations in the first reported case of nonimmune hydropic MPS VII whose cultured fibroblasts had < 1% of residual activity. The first mutation was a C-->T transition at position 1061 of the cDNA in...

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