Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.

Archives of Iranian medicine - 1 Nov 2014

Dastsooz Hassan, Dehghani Seyed Mohsen, Fardaei Majid

Abstract excerpt

BACKGROUND: Wilson disease is a rare autosomal recessive disorder of copper metabolism caused by mutation in the ATP7B gene. The combination of markers (such as SNPs) on a single chromosome can be used to understand the structure of haplotype in the human genome, in which provide notable information on the origin of the mutation in human genetic disorders. The purpose of this study was to determine a haplotype...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphatases
Share to Cation Transport Proteins
Share to Copper-Transporting ATPases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Hepatolenticular Degeneration

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 25365615
DOI: 0141711/AIM.007

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.PMID 25365615Read ↗

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.Semantic proximity Read ↗

A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.Semantic proximity Read ↗

New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.Semantic proximity Read ↗

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.Semantic proximity Read ↗

[Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease].Semantic proximity Read ↗

Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.Semantic proximity Read ↗

Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.Semantic proximity Read ↗

Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.Semantic proximity Read ↗

Identification of a novel missense mutation in Wilson's disease gene.Semantic proximity Read ↗

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.Semantic proximity Read ↗

Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.Semantic proximity Read ↗

Analysis of Wilson disease mutations in copper binding domain of ATP7B gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.