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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

2024Digestive and Liver Disease10 citationsDOI

Topics & Concepts

PenetranceMedicineDiseaseMutationGeneticsInternal medicinePhenotypeGeneBiologyTrace Elements in HealthAluminum toxicity and tolerance in plants and animalsIron Metabolism and Disorders
Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries. | Litcius