Article

Long-read sequencing of the <i>ATP7B</i> gene from Moroccan patients with suspected Wilson disease

2025-10-14

Abstract excerpt

<h4>Background</h4> Wilson disease (WD) is an autosomal recessive disease caused by loss of function of the copper transporter encoded by the ATP7B gene . Clinically, it mainly leads to hepatic failure and neuropsychiatric manifestations. Information about epidemiology, diagnosis, treatment, and survival of WD in Morocco is scarce. This study aimed to assess the feasibility of long-read sequencing using Oxford na...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1d43743b-7dfa-5038-b1ed-0c5b9788711c
DOI: 10.1101/2025.10.13.25337866

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long-read sequencing of the <i>ATP7B</i> gene from Moroccan patients with suspected Wilson diseaseDOI 10.1101/2025.10.13.25337866Read

Phenotype and molecular characterization of Wilson's disease in Morocco.Semantic proximity Read

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.Semantic proximity Read

WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.Semantic proximity Read

Clinical molecular diagnosis of Wilson disease.Semantic proximity Read

Genetic Screening of ATP7B Gene in Iranian Wilson Disease Patients: A diverse landscape of pathogenic variantsSemantic proximity Read

Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.Semantic proximity Read

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.Semantic proximity Read

Use of Estonian Biobank Data and Participant Recall to Improve Wilson’s Disease ManagementSemantic proximity Read

<i>ATP7B</i> Variant c.1934T>G p.Met645Arg Causes Wilson Disease by Promoting Exon 6 SkippingSemantic proximity Read

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.Semantic proximity Read

Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.Semantic proximity Read

Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.Semantic proximity Read