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Article

Werner syndrome: characterization of mutations in the WRN gene in an affected family.

European journal of human genetics : EJHG - 1 Jan 2000

Meisslitzer C, Ruppitsch W, Weirich-Schwaiger H, Weirich H G, Jabkowsky J, Klein G, Schweiger M, Hirsch-Kauffmann M

Abstract excerpt

Affected and unaffected members of a Caucasian family with Werner syndrome were analyzed for mutations in the recently described Werner syndrome (WRN) gene and for their relevance to phenotypic expression of chromosomal instability and x-ray hypersensitivity. Two distinct molecular alterations were documented in the family. Analysis of the genomic DNA revealed a single-base exchange from A to T at an intron-exon...

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Source

Identifiers

PMID: 9450180

Genes

WRN

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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.

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