Article
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
Genetic testing - 1 Jan 2000
Loudianos G, Lovicu M, Solinas P, Kanavakis E, Tzetis M, Manolaki N, Panagiotakaki E, Karpathios T, Cao A
Abstract excerpt
In this study, we report the further results of an ongoing project on the delineation of the spectrum of mutations on the ATP7B gene in Wilson disease (WD) patients of Greek origin. We have analyzed 24 additional families and detected 16 mutations (five frameshifts, two splice site, two nonsense, and seven missense), of which six are novel. On adding these results to the ones already published by us, we conclude...
Topics
- Adenosine Triphosphatases
- Alleles
- Carrier Proteins
- Cation Transport Proteins
- Copper-Transporting ATPases
- DNA Mutational Analysis
- Genetic Testing
- Greece
- Hepatolenticular Degeneration
- Humans
- Mutation
- Polymorphism, Genetic