High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

Screening for founder mutations in BRCA1 and BRCA2 has been discussed as a cost-effective testing strategy in certain populations. In this study, comprehensive BRCA1 and BRCA2 testing was performed in a routine diagnostic setting. The prevalence of the BRCA1 stop mutation c.4183C>T, p.(Gln1395Ter...

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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: Pölsler, Laura, Fiegl, Heidi, Wimmer, Katharina, Oberaigner, Willi, Amberger, Albert, Traunfellner, Pia, Morscher, Raphael J, Weber, Ingrid, Fauth, Christine, Wernstedt, Annekatrin, Sperner-Unterweger, Barbara, Oberguggenberger, Anne, Hubalek, Michael, Marth, Christian, Zschocke, Johannes
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2016
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717197/
https://ncbi.nlm.nih.gov/pubmed/26014432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.108
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