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Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

The identification of founder mutations in cancer predisposing genes is important to improve risk assessment in geographically defined populations, since it may provide specific targets resulting in cost-effective genetic testing. Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Ar...

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Asıl Yazarlar: Laura Caleca, Anna Laura Putignano, Mara Colombo, Caterina Congregati, Mohosin Sarkar, Thomas J Magliery, Carla B Ripamonti, Claudia Foglia, Bernard Peissel, Daniela Zaffaroni, Siranoush Manoukian, Carlo Tondini, Monica Barile, Valeria Pensotti, Loris Bernard, Laura Papi, Paolo Radice
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science (PLoS) 2014-01-01
Seri Bilgileri:PLoS ONE
Online Erişim:https://doi.org/10.1371/journal.pone.0086924
Etiketler: Etiketle
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