Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1
Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1
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Author / Creator
Caleca, Laura , Putignano, Anna Laura , Colombo, Mara , Congregati, Caterina , Sarkar, Mohosin , Magliery, Thomas J. , Ripamonti, Carla B. , Foglia, Claudia , Peissel, Bernard , Zaffaroni, Daniela , Manoukian, Siranoush , Tondini, Carlo , Barile, Monica , Pensotti, Valeria , Bernard, Loris , Papi, Laura and Radice, Paolo
Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
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.Cys64Arg) mutation, mapped to the RING-finger domain codi...
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Full title
Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1
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TN_cdi_plos_journals_1495649236
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1495649236
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0086924
