Genotype–phenotype correlation in Italian children with Wilson’s disease
✍ Scribed by Emanuele Nicastro; Georgios Loudianos; Lucia Zancan; Lorenzo D’Antiga; Giuseppe Maggiore; Matilde Marcellini; Cristiana Barbera; Maria Grazia Marazzi; Ruggiero Francavilla; Maria Pastore; Pietro Vajro; Mariangela D’Ambrosi; Angela Vegnente; Giusy Ranucci; Raffaele Iorio
- Book ID
- 116651747
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 331 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0168-8278
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📜 SIMILAR VOLUMES
Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti
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