Article
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
American journal of medical genetics - 8 Aug 1997
Choy F Y, Humphries M L, Shi H
Abstract excerpt
Gaucher disease is the most prevalent lysosomal storage disease. It is panethnic and results from an inherited deficiency of glucocerebrosidase. Most mutations to date have been identified among Jewish and non-Jewish Caucasian patients; mutations in Chinese patients are largely unknown. We have performed nucleotide sequence analysis of PCR-amplified glucocerebrosidase genomic DNA from five unrelated Chinese...
Topics
- Asian People
- Child
- DNA
- DNA Mutational Analysis
- DNA Restriction Enzymes
- Exons
- Gaucher Disease
- Glucosylceramidase
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational