Article
Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.
European journal of human genetics : EJHG - 1 Jan 1993
Akli S, Boue J, Sandhoff K, Kleijer W, Vamos E, Young E, Gatti R, Di Natale P, Motte J, Vanier M T
Abstract excerpt
Tay-Sachs disease is a lipidosis due to the deficiency of the lysosomal hexosaminidase A. In order to understand the molecular mechanisms of this enzyme deficiency we studied 42 patients of different ethnic origins diagnosed in Europe. The strategy used consists in HEXA cDNA amplification followe...
Topics
- Adult
- Alleles
- Base Composition
- Base Sequence
- Child, Preschool
- DNA Mutational Analysis
- Dinucleoside Phosphates
- Electrophoresis, Polyacrylamide Gel
- Frameshift Mutation
- Genotype
- Hexosaminidase A
- Humans
- Infant
- Molecular Epidemiology
- Molecular Sequence Data
- Mutagenesis, Insertional
- Mutation
- Nucleic Acid Heteroduplexes