Article
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
American journal of human genetics - 1 Jun 1991
Paw B H, Wood L C, Neufeld E F
Abstract excerpt
Two CpG mutations at codon 504 of the gene encoding the alpha-subunit of beta-hexosaminidase (the HEX A gene) have been identified previously: (1) a C deletion resulting in premature termination of the alpha-subunit and (2) a G----A transition resulting in 504Arg----His substitution, in patients with infantile Tay-Sachs disease and juvenile GM2 gangliosidosis, respectively. This prompted a search for a C----T...
Topics
- Alleles
- Base Sequence
- Cells, Cultured
- Codon
- Dinucleoside Phosphates
- Genotype
- Hexosaminidase A
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Plasmids