Article
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Human genetics - 1 Jul 2010
Friedrich Katrin, Lee Lin, Leistritz Dru F, Nürnberg Gudrun, Saha Bidisha, Hisama Fuki M, Eyman Daniel K, Lessel Davor, Nürnberg Peter, Li Chumei, Garcia-F-Villalta María J, Kets Carolien M, Schmidtke Joerg, Cruz Vítor Tedim, Van den Akker Peter C, Boak Joseph, Peter Dincy, Compoginis Goli, Cefle Kivanc, Ozturk Sukru, López Norberto, Wessel Theda, Poot Martin, Ippel P F, Groff-Kellermann Birgit, Hoehn Holger, Martin George M, Kubisch Christian, Oshima Junko
Abstract excerpt
Werner syndrome (WS) is an autosomal recessive segmental progeroid syndrome caused by null mutations at the WRN locus, which codes for a member of the RecQ family of DNA helicases. Since 1988, the International Registry of Werner syndrome had enrolled 130 molecularly confirmed WS cases from among 110 worldwide pedigrees. We now report 18 new mutations, including two genomic rearrangements, a deep intronic...
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