Article
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Journal of medical genetics - 1 Feb 1993
Harmon D L, Gardner-Medwin D, Stirling J L
Abstract excerpt
We have identified two new point mutations in the beta-hexosaminidase alpha subunit (HEX A) gene in a non-Jewish Tay-Sachs disease patient with an unusual late infantile onset disease phenotype. The patient was a compound heterozygote with each allele of the HEX A gene containing a different muta...
Topics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Heterozygote
- Hexosaminidase A
- Humans
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Protein Conformation
- Sequence Alignment
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases