Article
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
Human genetics - 1 Oct 1995
Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti P F, Rizzuto N, Salviati A
Abstract excerpt
beta-Hexosaminidase gene mutations were analyzed in two adult-onset Sandhoff disease Italian patients by PCR analysis of a common known mutation (delta 5') and by heteroduplex analysis of genomic and RT-PCR DNA fragments, covering the whole gene. The patients' genotypes were delta 5'/C1214%, and...
Topics
- Adult
- Base Sequence
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Sandhoff Disease
- beta-N-Acetylhexosaminidases