Article
Molecular aspects of Gaucher disease.
Developmental neuroscience - 1 Jan 1991
Levy H, Or A, Eyal N, Wilder S, Widgerson M, Kolodny E H, Zimran A, Horowitz M
Abstract excerpt
Gaucher disease is the most common sphingolipid storage disorder. Due to its high prevalence it may appear with a nonrelated neurological disease and be misinterpreted as Gaucher type 3. A family is described in which 2 Gaucher brothers presented different clinical signs. Molecular analysis has shown that both carried two mutated alleles. One allele had a G to C transversion at nucleotide 3119 of the active gene...
Topics
- Adolescent
- Adult
- Alleles
- Animals
- Child
- DNA
- DNA Mutational Analysis
- Diagnosis, Differential
- Feedback
- Female
- Gaucher Disease
- Gene Expression Regulation