title: Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions.
abstract: Congenital factor V (FV) deficiency is a rare coagulopathy associated with moderate to severe bleeding symptoms. A total of 34 mutations, all located in the FV gene (F5), have been described in patients with severe FV deficiency, only eight of them being of Asian descent. Sequencing of F5 in five unrelated Indian patients identified three novel small deletions in exon 13, all present in the homozygous state (g.50936-50937delAA or AG and g.51660delA, both occurring in two different patients, and g.52162delC). Besides widening the knowledge on the mutational spectrum of FV deficiency in Asian populations, these data will also be useful for purposes of prenatal diagnosis.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Asselta
authors.forename: Claudia
authors.initials: C
authors.lastname: Dall'Osso
authors.forename: Stefano
authors.initials: S
authors.lastname: Duga
authors.forename: Marta
authors.initials: M
authors.lastname: Spreafico
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Tenchini
mesh_terms: D000293:Adolescent; D000328:Adult; D005165:Factor V / Q000235:genetics*; D017353:Gene Deletion; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007194:India; D008297:Male
chemical_list: D005165:Factor V