Article
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Human mutation - 1 Jan 1998
Loudianos G, Dessì V, Lovicu M, Angius A, Nurchi A, Sturniolo G C, Marcellini M, Zancan L, Bragetti P, Akar N, Yagci R, Vegnente A, Cao A, Pirastu M
Abstract excerpt
This study presents the update results of an ongoing project on the delineation of the spectrum of mutations at the Wilson disease (WD) gene in WD patients of Mediterranean origin. In studying 59 patients, of whom were 26 Continental Italians, 22 Sardinians, 9 Turkish, and 2 Albanians, we have fo...
Topics
- Adenosine Triphosphatases
- Alternative Splicing
- Carrier Proteins
- Cation Transport Proteins
- Copper
- Copper-Transporting ATPases
- DNA
- Family Health
- Female
- Frameshift Mutation
- Gene Deletion
- Genes, Recessive
- Genotype
- Hepatolenticular Degeneration