Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
โ Scribed by Panagiotakaki, Eleni ;Tzetis, Maria ;Manolaki, Nina ;Loudianos, Giorgos ;Papatheodorou, Athanasios ;Manesis, Emmanuel ;Nousia-Arvanitakis, Sanda ;V, Syriopoulou ;Kanavakis, Emmanuel
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 89 KB
- Volume
- 131A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified. This study aimed to detect disease-causing mutations, to clarify their freq
## Pelizaeus -Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2) comprises a spectrum of diseases that range from severe to quite mild. The reasons for the variation in severity are not obvious, but suggested explanations include the extent of disruption of the transmembrane portion of the