Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p

Rare germline mutations in TP53 (17p13.1) cause a highly penetrant predisposition to a specific spectrum of early cancers, defining the Li-Fraumeni Syndrome (LFS). A germline mutation at codon 337 (p.Arg337His, c1010G>A) is found in about 0.3% of the population of Southern Brazil. This mutation i...

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Veröffentlicht in:PLoS One
Hauptverfasser: Paskulin, Diego Davila, Giacomazzi, Juliana, Achatz, Maria Isabel, Costa, Sandra, Reis, Rui Manoel, Hainaut, Pierre, dos Santos, Sidney Emanuel Batista, Ashton-Prolla, Patricia
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2015
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4664269/
https://ncbi.nlm.nih.gov/pubmed/26618902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0143262
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