X-Linked Thrombophilia with a Mutant Factor IX (Factor IX Padua)  

Oleh:

Simioni, Paolo ; Tormene, Daniela ; Tognin, Giulio ; Gavasso, Sabrina ; Bulato, Cristiana

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 361 no. 17 (Oct. 2009), page 1671-1675 .
Topik: X-Linked; Thrombophilia; Factor IX Padua

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2009.05 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

We report a case of juvenile thrombophilia associated with a substitution of leucine for arginine at position 338 (R338L) in the factor IX gene (factor IX–R338L). The level of the mutant factor IX protein in plasma was normal, but the clotting activity of factor IX from the proband was approximately eight times the normal level. In vitro, recombinant factor IX–R338L had a specific activity that was 5 to 10 times as high as that in the recombinant wild-type factor IX. The R338 substitution causes a gain-of-function mutation, resulting in factor IX that is hyperfunctional.

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