Article
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.
American journal of human genetics - 1 Oct 1993
Horowitz M, Tzuri G, Eyal N, Berebi A, Kolodny E H, Brady R O, Barton N W, Abrahamov A, Zimran A
Abstract excerpt
The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active gl...
Topics
- Base Sequence
- DNA
- Gaucher Disease
- Gene Amplification
- Glucosylceramidase
- Humans
- Jews
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligodeoxyribonucleotides
- Prevalence