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.
Human genetics - 1 Jul 2002
Soria José Manuel, Blangero John, Souto Joan Carles, Martínez-Sánchez Elisabeth, Martínez-Marchán Elisabeth, Coll Immaculada, Tirado Isabel, Cercós Albert, Almasy Laura, Fontcuberta Jordi
Abstract excerpt
As part of the GAIT (genetic analysis of idiopathic thrombophilia) project, we analyzed polymorphisms in the factor V (FV) gene to assess their role as genetic determinants of normal phenotypic variation of hemostasis-related traits in a Spanish population. During the analysis of exon 13 polymorphisms, we detected an abnormal PCR-amplified fragment in some members of the GAIT19 family. Direct sequence analysis...
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