Article
Glucocerebrosidase (Gaucher disease).
Human mutation - 1 Jan 1996
Beutler E, Gelbart T
Abstract excerpt
Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenome...
Topics
- Alternative Splicing
- Bone and Bones
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Frameshift Mutation
- Gaucher Disease
- Glucosylceramidase
- Haplotypes
- Hepatomegaly
- Humans
- Jews
- Lung Diseases
- Mutation
- Point Mutation
- Sequence Deletion
- Splenomegaly