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Article

Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.

PloS one - 1 Jan 2013

Pistis Giorgio, Okonkwo Shawntel U, Traglia Michela, Sala Cinzia, Shin So-Youn, Masciullo Corrado, Buetti Iwan, Massacane Roberto, Mangino Massimo, Thein Swee-Lay, Spector Timothy D, Ganesh Santhi, Pirastu Nicola, Gasparini Paolo, Soranzo Nicole, Camaschella Clara, Hart Daniel, Green Michael R, Toniolo Daniela

Abstract excerpt

The red blood cell related traits are highly heritable but their genetics are poorly defined. Only 5-10% of the total observed variance is explained by the genetic loci found to date, suggesting that additional loci should be searched using approaches alternative to large meta analysis. GWAS (Genome Wide Association Study) for red blood cell traits in a founder population cohort from Northern Italy identified a...

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Identifiers

PMID: 23935956
DOI: 10.1371/journal.pone.0069206
PMCID: PMC3729833

Genes

TAF3
SPTA1

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