Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

Germline inactivating mutations in BRCA1 and BRCA2 genes are responsible for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). Genetic testing of these genes is available, although approximately 15% of tests identify variants of uncertain significance (VUS). Classification of these variants int...

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Detaylı Bibliyografya
Asıl Yazarlar: Quiles, Francisco, Fernández-Rodríguez, Juana, Mosca, Roberto, Feliubadaló, Lídia, Tornero, Eva, Brunet, Joan, Blanco, Ignacio, Capellá, Gabriel, Pujana, Miquel Àngel, Aloy, Patrick, Monteiro, Alvaro, Lázaro, Conxi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2013
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3629201/
https://ncbi.nlm.nih.gov/pubmed/23613828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0061302
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