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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Bibliographic Details
Main Author: Paskulin, Diego Davilla (author)
Other Authors: Giacomazzi, Juliana (author), Achatz, Maria Isabel (author), Costa, Sandra (author), Reis, R. M. (author), Hainau, Pierre (author), Santos, Sidney Emanuel Batista dos (author), Prolla, Patricia Ashton (author)
Format: article
Language:eng
Published: 2015
Subjects:
Science & Technology
Online Access:http://hdl.handle.net/1822/40695
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/40695

Internet

http://hdl.handle.net/1822/40695

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