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

Homozygous and compound heterozygous mutations at the Werner syndrome locus.

Human molecular genetics - 1 Dec 1996

Oshima J, Yu C E, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J, Ogihara T, Ells J, Smith M, Melaragno M I, Fraccaro M, Scappaticci S, Matthews J, Ouais S, Jarzebowicz A, Schellenberg G D, Martin G M

Abstract excerpt

The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation results in a 4 bp...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Homozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Asian People

Share to DNA Helicases

Share to Exodeoxyribonucleases

Share to Heterozygote

Share to Werner Syndrome

Share to White People

Source

Identifiers

PMID: 8968742
DOI: 10.1093/hmg/5.12.1909

Genes

WRN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous and compound heterozygous mutations at the Werner syndrome locus.PMID 8968742Read ↗

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.Semantic proximity Read ↗

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.Semantic proximity Read ↗

Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.Semantic proximity Read ↗

Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.Semantic proximity Read ↗

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.Semantic proximity Read ↗

A novel mutation of the WRN gene in a Chinese patient with Werner syndrome.Semantic proximity Read ↗

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.Semantic proximity Read ↗

Werner syndrome and mutations of the WRN and LMNA genes in France.Semantic proximity Read ↗

Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.Semantic proximity Read ↗

Molecular and epidemiological studies of Werner syndrome in the Japanese population.Semantic proximity Read ↗

Comparative aspects of the Werner syndrome gene.Semantic proximity Read ↗

Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.Semantic proximity Read ↗

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