Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53

Abstract 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-a...

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Autori principali:	Mariana Fitarelli-Kiehl, Gabriel S. Macedo, Rosane Paixão Schlatter, Patricia Koehler-Santos, Ursula da Silveira Matte, Patricia Ashton-Prolla, Juliana Giacomazzi
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Sociedade Brasileira de Genética 2016-06-01
Serie:	Genetics and Molecular Biology
Soggetti:	TP53-p.R337H RFLP TaqMan HRM Sanger Sequencing
Accesso online:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200203&tlng=en
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