Coagulation factor V gene analysis in five Indian patients : identification of three novel small deletions
Articolo
Data di Pubblicazione:
2006
Citazione:
Coagulation factor V gene analysis in five Indian patients : identification of three novel small deletions / R. Asselta, C. Dall'Osso, S. Duga, M. Spreafico, R. Saxena, M.L. Tenchini. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 91:12(2006 Dec), pp. 1724-1726.
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
coagulation factor V; factor V deficiency; gene analysis; mutation
Elenco autori:
R. Asselta, C. Dall'Osso, S. Duga, M. Spreafico, R. Saxena, M.L. Tenchini
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