Article
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
Human mutation - 1 Jan 1994
Beutler E, Gelbart T
Abstract excerpt
Two sisters with moderately severe Gaucher disease were diagnosed as having the usually relatively benign 1226G/1226G genotype by examination of DNA amplified from exon 9, where this mutation is located. Because of the discrepancy between the apparent genotype and the phenotype, we suspected that...
Topics
- Diseases in Twins
- Female
- Gaucher Disease
- Gene Deletion
- Genotype
- Glucosylceramidase
- Heterozygote
- Homozygote
- Humans
- Male
- Middle Aged
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Pseudogenes
- Pyruvate Kinase
- Twins, Dizygotic