Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.
Pablo Alonso-Castellano, Antonio Tugores, Zoe Mariñó, Antonio Olveira, Marina Berenguer, Maite Huarte, J. Fernández-Ramos, María Lázaro-Ríos, M.L. González-Diéguez, J.M. Moreno Planas, Manuel Hernández‐Guerra, Paula Álvarez, Manuel Delgado‐Blanco, José M. Pinazo-Bandera, Marta Romero-Gutiérrez, Javier Ampuero, Helena Masnou-Ridaura, Alba Cachero, Vı́ctor Vargas, Judith Gómez‐Camarero, María Julia Morillas-Ariño, Esther Molina, Anna Miralpeix, Luis García‐Villarreal
Topics & Concepts
PenetranceMedicineDiseaseMutationGeneticsInternal medicinePhenotypeGeneBiologyTrace Elements in HealthAluminum toxicity and tolerance in plants and animalsIron Metabolism and Disorders