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Article

Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.

Human molecular genetics - 1 Feb 2010

Calafell Francesc, Almasy Laura, Sabater-Lleal Maria, Buil Alfonso, Mordillo Carolina, Ramírez-Soriano Anna, Sikora Martin, Souto Juan Carlos, Blangero John, Fontcuberta Jordi, Soria José Manuel

Abstract excerpt

The level of Factor XII (FXII) is an important phenotype that exhibits a high genetic component and is associated with thrombotic disease. In a genome-wide linkage scan, we demonstrated that the F12 gene represents a quantitative trait locus (QTL) that influences FXII levels. The current study investigated the genetic architecture of the F12 gene to locate polymorphism(s) responsible for the variation of FXII...

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Source

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Identifiers

PMID: 19933701
DOI: 10.1093/hmg/ddp517
PMCID: PMC2798724

Genes

F12

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Source receipt: pubmed, retrieved 7 Sept 2026.

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