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 we...
Topics
- Adult
- Aging, Premature
- Austria
- Chromosome Aberrations
- Chromosome Breakage
- DNA Helicases
- DNA Mutational Analysis
- Exodeoxyribonucleases
- Female
- Fibroblasts
- Genotype
- Humans
- Lymphocytes
- Male
- Micronucleus Tests
- Pedigree
- Phenotype
- RNA Splicing