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Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.
Calafell F, Almasy L, Sabater-Lleal M, Buil A, Mordillo C, Ramírez-Soriano A, Sikora M, Souto JC, Blangero J, Fontcuberta J, Soria JM. Calafell F, et al. Among authors: fontcuberta j. Hum Mol Genet. 2010 Feb 1;19(3):517-25. doi: 10.1093/hmg/ddp517. Epub 2009 Nov 23. Hum Mol Genet. 2010. PMID: 19933701 Free PMC article.
A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease.
Soria JM, Almasy L, Souto JC, Bacq D, Buil A, Faure A, Martínez-Marchán E, Mateo J, Borrell M, Stone W, Lathrop M, Fontcuberta J, Blangero J. Soria JM, et al. Among authors: fontcuberta j. Am J Hum Genet. 2002 Mar;70(3):567-74. doi: 10.1086/339259. Epub 2002 Jan 22. Am J Hum Genet. 2002. PMID: 11805911 Free PMC article.
Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties.
Soria JM, Blangero J, Souto JC, Martínez-Sánchez E, Martínez-Marchán E, Coll I, Tirado I, Cercós A, Almasy L, Fontcuberta J. Soria JM, et al. Among authors: fontcuberta j. Hum Genet. 2002 Jul;111(1):59-65. doi: 10.1007/s00439-002-0746-y. Epub 2002 Jun 18. Hum Genet. 2002. PMID: 12136237
A genomewide exploration suggests a new candidate gene at chromosome 11q23 as the major determinant of plasma homocysteine levels: results from the GAIT project.
Souto JC, Blanco-Vaca F, Soria JM, Buil A, Almasy L, Ordoñez-Llanos J, Martín-Campos JM, Lathrop M, Stone W, Blangero J, Fontcuberta J. Souto JC, et al. Among authors: fontcuberta j. Am J Hum Genet. 2005 Jun;76(6):925-33. doi: 10.1086/430409. Epub 2005 Apr 22. Am J Hum Genet. 2005. PMID: 15849667 Free PMC article.
323 results