Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain - Sánchez‐Monteagudo, Ana; Álvarez‐Sauco, María; Sastre, Isabel; Martínez‐Torres, Irene; Lupo, Vincenzo; Berenguer, Marina; Espinós, Carmen (Clinical genetics, 2020)
Keywords: ATP7B gene; CCDC115 gene; Diagnosis; Exons; Genetic analysis; genetic diagnosis; Genetic screening; Glycosylation; Hereditary diseases; Introns; Mutation; Phenotypes; targeted next‐generation sequencing; whole exome sequencing; Wilson's disease; Wilson‐like phenotype; Spain; targeted next-generation sequencing; genetic diagnosis; CCDC115 gene; Wilson's disease; whole exome sequencing; ATP7B gene; Wilson-like phenotype