Article
Adult and infantile Gaucher disease in one family: mutational studies and clinical update.
The Journal of pediatrics - 1 Dec 1994
Shahinfar M, Wenger D A
Abstract excerpt
Molecular analysis and clinical updates are provided on a previously reported mother and adult son with Gaucher disease; two other children died with acute neuronopathic (type 2) Gaucher disease. The mother and son have the identical genotype (370/444) but very different clinical manifestations. These findings illustrate the need for additional studies before families with newly diagnosed Gaucher disease undergo...
Topics
- Adult
- Alleles
- Base Sequence
- DNA
- Female
- Gaucher Disease
- Gene Amplification
- Genetic Counseling
- Genotype
- Heterozygote
- Humans
- Infant