WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

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 11...

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Publicado no:Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4686336/
https://ncbi.nlm.nih.gov/pubmed/20443122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0832-5
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