Article
Mutations in Jewish patients with Gaucher disease.
Blood - 1 Apr 1992
Beutler E, Gelbart T, Kuhl W, Zimran A, West C
Abstract excerpt
DNA from 100 unrelated patients, 97 of whom were Jewish and three half-Jewish, was analyzed for 22 mutations known to cause Gaucher disease. All but seven of the alleles were identified as having previously described mutations. Five of the unidentified mutations proved to be a previously undescribed nucleotide substitution in a splice junction (IVS2+1) that causes skipping of exon 2. Thus, only 2 of 197 alleles...
Topics
- Alleles
- Exons
- Gaucher Disease
- Genotype
- Homozygote
- Humans
- Jews
- Mutation
- Phenotype
- RNA Splicing