Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H inTP53

Germline mutations in the TP53 gene are associated with Li-Fraumeni and Li-Fraumeni-Like Syndromes, characterized by increased predisposition to early-onset cancers. In Brazil, the prevalence of the TP53-p.R337H germline mutation is exceedingly high in the general population and in cancer-affected p...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genet Mol Biol
Prif Awduron: Fitarelli-Kiehl, Mariana, Macedo, Gabriel S., Schlatter, Rosane Paixão, Koehler-Santos, Patricia, Matte, Ursula da Silveira, Ashton-Prolla, Patricia, Giacomazzi, Juliana
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Sociedade Brasileira de Genética 2016
Pynciau:
Special Oncogenetics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4910550/
https://ncbi.nlm.nih.gov/pubmed/27275664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2014-0351
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