Article
RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
American journal of medical genetics - 1 Mar 1994
Zimran A, Horowitz M
Abstract excerpt
We describe 4 Jewish patients with type 1 Gaucher disease and the genotype N370S/recTL. They present either asymptomatic or mild Gaucher disease. RecTL is a complex allele that contains 4 single point mutations in the glucocerebrosidase gene: D409H, L444P, A456P, and V460V. Since patients who have the genotype N370S/L444P usually develop a moderate to severe course of Gaucher disease, and those who are homozygous...
Topics
- Adult
- Alleles
- Blotting, Southern
- Child
- DNA Mutational Analysis
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Humans
- Jews
- Male
- Middle Aged