A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.

Abstract excerpt

We have identified a new T-to-A single-base substitution at nucleotide 3548 (in the genomic sequence) in exon 6 in the glucocerebrosidase gene from a patient with Gaucher disease type 3. This mutation caused a substitution of isoleucine for phenylalanine at amino acid residue 213 (of 497 residues in the mature protein). By in vitro expression study in cultured mammalian cells, this mutation resulted in deficient...

Topics

• Base Sequence
• Child, Preschool
• Female
• Gaucher Disease
• Glucosylceramidase
• Humans
• Molecular Sequence Data
• Mutation
• Nervous System Diseases