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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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Principais autores: Mariana Fitarelli-Kiehl, Gabriel S. Macedo, Rosane Paixão Schlatter, Patricia Koehler-Santos, Ursula da Silveira Matte, Patricia Ashton-Prolla, Juliana Giacomazzi
פורמט: Artigo
שפה:Inglês
יצא לאור: Sociedade Brasileira de Genética 2016-06-01
סדרה:Genetics and Molecular Biology
נושאים:
TP53-p.R337H
RFLP
TaqMan
HRM
Sanger Sequencing
גישה מקוונת:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200203&tlng=en
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