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Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

Clinical genetics - 1 May 2020

Sánchez-Monteagudo Ana, Álvarez-Sauco María, Sastre Isabel, Martínez-Torres Irene, Lupo Vincenzo, Berenguer Marina, Espinós Carmen

Abstract excerpt

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs...

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Identifiers

PMID: 32043565
DOI: 10.1111/cge.13719

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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