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Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

Human mutation - 1 Feb 2010

Garritano Sonia, Gemignani Federica, Palmero Edenir Inez, Olivier Magali, Martel-Planche Ghyslaine, Le Calvez-Kelm Florence, Brugiéres Laurence, Vargas Fernando Regla, Brentani Ricardo Renzo, Ashton-Prolla Patricia, Landi Stefano, Tavtigian Sean V, Hainaut Pierre, Achatz Maria Isabel W

Abstract excerpt

Due to patterns of migration, selection, and population expansion, founder effects are common among humans. In Southern Brazil, a recurrent TP53 mutation, p.R337H, is detected in families with cancer predisposition. We have used whole locus resequencing and high-density single nucleotide polymorphism (SNP) genotyping to refine TP53 locus haplotype definitions. Haplotyping of 12 unrelated p.R337H carriers using a...

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Identifiers

PMID: 19877175
DOI: 10.1002/humu.21151

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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