Article
Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.
World journal of pediatrics : WJP - 1 Nov 2011
El-Morsy Zakarya, Khashaba Mohamed T, Soliman Othman El-Sayed, Yahia Sohier, El-Hady Dina Abd
Abstract excerpt
INTRODUCTION: More than 200 mutations have been found in patients with Gaucher disease (GD) and some mutations usually have a high frequency in certain populations. Genotype/phenotype correlation in patients with GD has not been established. This study was designed to determine underlying mutations in Egyptian children with GD and to assess their relation to disease phenotypes. METHODS: This study comprised 17...
Topics
- Adolescent
- Alleles
- Child
- Child, Preschool
- Egypt
- Female
- Gaucher Disease
- Genetic Association Studies
- Glucosylceramidase
- Humans
- Infant
- Male
- Mutation, Missense
- Phenotype