Article
A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
Biochemical and biophysical research communications - 17 Jul 1995
Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H
Abstract excerpt
A novel missense mutation (1565G-->A) was identified in the cDNA and genomic DNA coding for the beta-hexosaminidase beta-subunit of a Japanese patient with infantile Sandhoff disease. The patient was homozygous for this mutation, which should result in a cysteine-to-tyrosine substitution at codon...
Topics
- Base Sequence
- Codon
- Consanguinity
- Conserved Sequence
- Cysteine
- DNA Mutational Analysis
- Female
- Fibroblasts
- Fluorescent Antibody Technique
- G(M2) Ganglioside
- Humans
- Infant
- Japan
- Molecular Sequence Data
- Mutation
- Protein Structure, Secondary
- Sandhoff Disease
- Tyrosine