Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by multiple features consistent with accelerated aging. It is caused by mutations in the WRN gene, which encodes a RecQ type helicase. To date, more than 70 disease-causing mutations have been reported. While founder mutations...

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Detalles Bibliográficos
Autores principales: Saha, Bidisha, Lessel, Davor, Nampoothiri, Sheela, Rao, Anuradha S, Hisama, Fuki M, Peter, Dincy, Bennett, Chris, Nürnberg, Gudrun, Nürnberg, Peter, Martin, George M, Kubisch, Christian, Oshima, Junko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736606/
https://www.ncbi.nlm.nih.gov/pubmed/23936869
http://dx.doi.org/10.1002/mgg3.1

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