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 f...

Topics

• Amino Acid Sequence
• Base Sequence
• Cells, Cultured
• DNA Mutational Analysis
• Electrophoresis, Polyacrylamide Gel
• Female
• Half-Life
• Humans
• Hydrops Fetalis
• Infant, Newborn
• Molecular Sequence Data
• Mucopolysaccharidosis VII
• Mutation
• Polymerase Chain Reaction