Article

Identification of novel compound ATP7B mutations in a child with rare Wilson disease: A case report

2023-01-11

Abstract excerpt

<h4>Background: </h4> Wilson disease (WD) is an autosomal-recessive metabolic disorder characterized by excess copper accumulation predominantly in the liver, brain, and cornea. Clinical diagnosis of WD remains a challenge because of its phenotypic heterogeneity. Here we describe the novel mutation (p. K838N) in the ATP7B gene of a child with WD. The mutation affects a conserved ATP-binding domain that is involved...

Topics

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

Identifiers and source

Literature Corpus work: 2ba7dfc8-6568-527e-88bd-34d7290a6797
DOI: 10.21203/rs.3.rs-2434176/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of novel compound ATP7B mutations in a child with rare Wilson disease: A case reportDOI 10.21203/rs.3.rs-2434176/v1Read

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.Semantic proximity Read

ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.Semantic proximity Read

Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.Semantic proximity Read

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.Semantic proximity Read

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.Semantic proximity Read

Wilson disease in children and young adults - State of the art.Semantic proximity Read

Exploring the pathogenesis of a compound heterozygous variant in ATP7B associated with Wilson disease in an Iranian family.Semantic proximity Read

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.Semantic proximity Read

Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.Semantic proximity Read

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.Semantic proximity Read

Clinical and genetic analysis of pediatric patients with Wilson disease.Semantic proximity Read

Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.Semantic proximity Read