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Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the RECQL-helicase gene BLM. Previous studies have led to conflicting conclusions as to whether carriers of heterozygous BLM mutations have an increa...

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Detalles Bibliográficos
Autores principales: de Voer, Richarda M., Hahn, Marc-Manuel, Mensenkamp, Arjen R., Hoischen, Alexander, Gilissen, Christian, Henkes, Arjen, Spruijt, Liesbeth, van Zelst-Stams, Wendy A., Marleen Kets, C., Verwiel, Eugene T., Nagtegaal, Iris D., Schackert, Hans K., van Kessel, Ad Geurts, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566092/
https://www.ncbi.nlm.nih.gov/pubmed/26358404
http://dx.doi.org/10.1038/srep14060