First nationwide genetic study on Wilson disease (Spanish Wilson registry): high diversity in mutations and in use of genetic evaluation, association with clinical data and influence on diagnosis and health costs Pablo Alonso Castellano , Zoe Marino , Antonio Olveira Martin , Javier Ampuero , Marina Berenguer , Diego Burgos Santamaria , Jose Ramon Fernandez , Jose Maria Moreno Planas , Maria Lazaro Rios , Helena Masnou , Maria Luisa Gonzalez Dieguez , Jose Pinazo Bandera , Esther Molina , Manuel Hernandez Guerra , Concepcion Gonzalez de Frutos , Patricia Cordero Ruiz , Carolina Munoz Codoceo , Sara Lorente , Alba Cachero , Manuel Delgado , Victor Manuel Vargas Blasco , Judith Gomez-Camarero , Julia Morillas , Francisca Cuenca Alarcon , Luis Ibanez Samaniego , Miguel Fernandez-Bermejo , Beatriz Alvarez-Suarez , Paula Iruzubieta , Ana Arencibia Almeida , Anna Miralpeix , Pilar Castillo , Luis Garcia-Villarreal Journal of Hepatology（2023）
关键词
wilson disease, spanish wilson registry, nationwide genetic study, genetic evaluation, mutations
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